#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
KIAA1217	56243	broad.mit.edu	37	10	24816886	24816887	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr10:24816886_24816887insA	ENST00000376454.3	+	14	2950_2951	c.2920_2921insA	c.(2920-2922)gaafs	p.E974fs	KIAA1217_ENST00000376451.2_Frame_Shift_Ins_p.E657fs|KIAA1217_ENST00000307544.6_Frame_Shift_Ins_p.E657fs|KIAA1217_ENST00000458595.1_Frame_Shift_Ins_p.E939fs|KIAA1217_ENST00000376452.3_Frame_Shift_Ins_p.E939fs|KIAA1217_ENST00000376462.1_Frame_Shift_Ins_p.E894fs|KIAA1217_ENST00000396446.1_Frame_Shift_Ins_p.E657fs|KIAA1217_ENST00000430453.2_3'UTR|KIAA1217_ENST00000396445.1_Frame_Shift_Ins_p.E657fs	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	974					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)		p.R976fs*8(1)|p.R976fs*16(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GAAATGGGAGGAAAAAAGGCAA	0.436																																					p.E894fs												.	.	2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	large_intestine(2)	c.2680_2681insA	10						.																																			24856893	SO:0001589	frameshift_variant	56243	exon15			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.2926dupA	10.37:g.24816892_24816892dupA	ENSP00000365637:p.Glu974fs		24856892	NM_001098500	A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Frame_Shift_Ins	INS	ENST00000376454.3	37	CCDS31165.1																																																																																				0.436	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590	
MTPAP	55149	broad.mit.edu	37	10	30604933	30604934	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr10:30604933_30604934insA	ENST00000263063.4	-	8	1387_1388	c.1344_1345insT	c.(1342-1347)tttggcfs	p.G449fs	MTPAP_ENST00000358107.4_Frame_Shift_Ins_p.G579fs|MTPAP_ENST00000488290.1_5'UTR	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	449	PAP-associated.				cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)	p.G449fs*7(1)|p.G579fs*7(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						GCAAAATTGCCAAAATACTCAA	0.292																																					p.G449fs												.	.	2	Insertion - Frameshift(2)	large_intestine(2)	c.1345_1346insT	10						.																																			30644940	SO:0001589	frameshift_variant	55149	exon8			AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"""TUTase1"""	613669	"""PAP associated domain containing 1"""	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000263063.4:c.1345dupT	10.37:g.30604937_30604937dupA	ENSP00000263063:p.Gly449fs		30644939	NM_018109	D3DRX0|Q659E3|Q6P7E5|Q9HA74	Frame_Shift_Ins	INS	ENST00000263063.4	37	CCDS7165.1																																																																																				0.292	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047426.2	NM_018109	
C10orf2	56652	broad.mit.edu	37	10	102748694	102748694	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr10:102748694G>A	ENST00000311916.2	+	1	912	c.727G>A	c.(727-729)Gcc>Acc	p.A243T	MRPL43_ENST00000299179.5_5'Flank|C10orf2_ENST00000370228.1_Missense_Mutation_p.A243T|MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000370236.1_5'Flank|MRPL43_ENST00000318364.8_5'Flank|MRPL43_ENST00000342071.1_5'Flank|MRPL43_ENST00000370242.4_5'Flank|C10orf2_ENST00000473656.1_Intron|MRPL43_ENST00000318325.2_5'Flank|MRPL43_ENST00000370241.3_5'Flank|MRPL43_ENST00000477279.1_5'Flank|MRPL43_ENST00000370234.4_5'Flank	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	243					cell death (GO:0008219)|DNA unwinding involved in DNA replication (GO:0006268)|mitochondrial DNA replication (GO:0006264)|protein hexamerization (GO:0034214)|protein homooligomerization (GO:0051260)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial nucleoid (GO:0042645)	5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.A243T(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CCGACCCAGCGCCTACCACAA	0.562																																					p.A243T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G727A	10						.						82.0	75.0	77.0					10																	102748694		2203	4300	6503	102738684	SO:0001583	missense	56652	exon1			AF292004	CCDS7506.1, CCDS53570.1	10q24	2013-05-13			ENSG00000107815	ENSG00000107815			1160	protein-coding gene	gene with protein product	"""twinkle"", ""T7 helicase-related protein with intramitochondrial nucleoid localization"""	606075	"""infantile onset spinocerebellar ataxia (autosomal recessive)"""	IOSCA		11431692, 10645945, 16135556	Standard	NM_021830		Approved	PEO, PEO1, TWINKLE, FLJ21832, TWINL	uc001ksf.2	Q96RR1	OTTHUMG00000018917	ENST00000311916.2:c.727G>A	10.37:g.102748694G>A	ENSP00000309595:p.Ala243Thr		102738684	NM_001163812	B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	Missense_Mutation	SNP	ENST00000311916.2	37	CCDS7506.1	.	.	.	.	.	.	.	.	.	.	G	7.813	0.716038	0.15306	.	.	ENSG00000107815	ENST00000311916;ENST00000370228	D;D	0.95035	-3.26;-3.59	5.54	5.54	0.83059	.	0.320705	0.34178	N	0.004185	D	0.87763	0.6259	L	0.38531	1.155	0.23249	N	0.998044	P;B	0.39964	0.697;0.029	B;B	0.33339	0.162;0.006	T	0.78450	-0.2199	10	0.11182	T	0.66	-14.5419	9.6573	0.39934	0.0:0.1515:0.6919:0.1567	.	243;243	Q96RR1-2;Q96RR1	.;PEO1_HUMAN	T	243	ENSP00000309595:A243T;ENSP00000359248:A243T	ENSP00000309595:A243T	A	+	1	0	C10orf2	102738684	0.992000	0.36948	0.995000	0.50966	0.290000	0.27261	2.275000	0.43399	2.618000	0.88619	0.462000	0.41574	GCC		0.562	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049886.1	NM_021830	
GBF1	8729	broad.mit.edu	37	10	104140384	104140384	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr10:104140384G>A	ENST00000369983.3	+	38	5371	c.5111G>A	c.(5110-5112)cGc>cAc	p.R1704H		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	1704					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.R1704H(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)		ACCTGGGAACGCATTGACTGT	0.557																																					p.R1701H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5102A	10						.						256.0	279.0	271.0					10																	104140384		2203	4300	6503	104130374	SO:0001583	missense	8729	exon38			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.5111G>A	10.37:g.104140384G>A	ENSP00000359000:p.Arg1704His		104130374	NM_001199378	Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	32	5.147268	0.94603	.	.	ENSG00000107862	ENST00000369983	T	0.13778	2.56	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.37919	0.1021	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.986;0.987	T	0.00617	-1.1642	10	0.39692	T	0.17	-14.0455	20.2985	0.98592	0.0:0.0:1.0:0.0	.	1700;1700;1704	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	H	1704	ENSP00000359000:R1704H	ENSP00000359000:R1704H	R	+	2	0	GBF1	104130374	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.692000	0.98682	2.793000	0.96121	0.655000	0.94253	CGC		0.557	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1		
AS3MT	57412	broad.mit.edu	37	10	104632957	104632957	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr10:104632957C>T	ENST00000369880.3	+	5	502	c.425C>T	c.(424-426)gCt>gTt	p.A142V	C10orf32-ASMT_ENST00000299353.6_3'UTR	NM_020682.3	NP_065733.2	Q9HBK9	AS3MT_HUMAN	arsenite methyltransferase	142					arsonoacetate metabolic process (GO:0018872)|toxin metabolic process (GO:0009404)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	arsenite methyltransferase activity (GO:0030791)|methylarsonite methyltransferase activity (GO:0030792)	p.A142V(1)		large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		TTGGGAGAGGCTGGAATCAAG	0.338																																					p.A142V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C425T	10						.						130.0	130.0	130.0					10																	104632957		1832	4091	5923	104622947	SO:0001583	missense	57412	exon5			AF226730	CCDS41567.1	10q24.33	2014-05-09	2014-05-09		ENSG00000214435	ENSG00000214435	2.1.1.137		17452	protein-coding gene	gene with protein product		611806	"""arsenic (+3 oxidation state) methyltransferase"""			11790780	Standard	NM_020682		Approved	CYT19	uc001kwk.3	Q9HBK9	OTTHUMG00000018972	ENST00000369880.3:c.425C>T	10.37:g.104632957C>T	ENSP00000358896:p.Ala142Val		104622947	NM_020682	A6NP79|Q0VDK3|Q0VDK4|Q5PZ02	Missense_Mutation	SNP	ENST00000369880.3	37	CCDS41567.1	.	.	.	.	.	.	.	.	.	.	C	4.131	0.022631	0.08006	.	.	ENSG00000214435	ENST00000369880	T	0.23552	1.9	5.35	4.44	0.53790	Methyltransferase type 11 (1);	0.153866	0.56097	D	0.000024	T	0.19287	0.0463	L	0.34521	1.04	0.80722	D	1	B;B;B	0.32753	0.383;0.114;0.114	B;B;B	0.36464	0.225;0.113;0.137	T	0.01844	-1.1262	10	0.06099	T	0.92	-6.3219	13.4143	0.60959	0.0:0.9221:0.0:0.0779	.	142;142;142	Q0VDK3;Q9HBK9;Q0VDK4	.;AS3MT_HUMAN;.	V	142	ENSP00000358896:A142V	ENSP00000358896:A142V	A	+	2	0	AS3MT	104622947	0.987000	0.35691	0.500000	0.27589	0.055000	0.15305	2.857000	0.48349	1.380000	0.46344	0.561000	0.74099	GCT		0.338	AS3MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050107.1	NM_020682	
SORCS1	114815	broad.mit.edu	37	10	108389099	108389099	+	Silent	SNP	G	G	A	rs140662613		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr10:108389099G>A	ENST00000263054.6	-	19	2530	c.2523C>T	c.(2521-2523)atC>atT	p.I841I	SORCS1_ENST00000344440.6_Silent_p.I841I|SORCS1_ENST00000369698.1_Silent_p.I376I	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	841	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.I841I(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AAGACACCGCGATACCATCGC	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		21119	0.0		0.001	False		,,,				2504	0.0				p.I841I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2523T	10						.	G	,,,,,	1,4405	2.1+/-5.4	0,1,2202	163.0	114.0	131.0		2523,2523,2523,2523,2523,2523	-4.1	1.0	10	dbSNP_134	131	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SORCS1	NM_001013031.2,NM_001206569.1,NM_001206570.1,NM_001206571.1,NM_001206572.1,NM_052918.4	,,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,,	841/1199,841/1180,841/1131,841/1160,841/1180,841/1169	108389099	1,13005	2203	4300	6503	108379089	SO:0001819	synonymous_variant	114815	exon19			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2523C>T	10.37:g.108389099G>A			108379089	NM_052918	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Silent	SNP	ENST00000263054.6	37	CCDS7559.1																																																																																				0.502	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918	
USP6NL	9712	broad.mit.edu	37	10	11505268	11505268	+	Silent	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr10:11505268G>A	ENST00000609104.1	-	15	2053	c.1659C>T	c.(1657-1659)aaC>aaT	p.N553N	USP6NL_ENST00000277575.5_Silent_p.N570N|USP6NL_ENST00000379237.2_Silent_p.N576N	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	553					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.N570N(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						GGCCTGGCACGTTGTCGTACT	0.662																																					p.N553N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1659T	10						.						53.0	57.0	55.0					10																	11505268		2080	4194	6274	11545274	SO:0001819	synonymous_variant	9712	exon15			BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"""related to the N terminus of tre"""	605405	"""USP6NL intronic transcript 1 (non-protein coding)"""	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.1659C>T	10.37:g.11505268G>A			11545274	NM_014688	A8KA79|Q15400|Q5VV10|Q7L0K9	Silent	SNP	ENST00000609104.1	37	CCDS53492.1																																																																																				0.662	USP6NL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046764.3	NM_014688	
TCF7L2	6934	broad.mit.edu	37	10	114925476	114925476	+	Silent	SNP	G	G	A	rs368142604		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr10:114925476G>A	ENST00000355995.4	+	15	2112	c.1605G>A	c.(1603-1605)tcG>tcA	p.S535S	TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000545257.1_Silent_p.S535S|TCF7L2_ENST00000355717.4_3'UTR|TCF7L2_ENST00000543371.1_Silent_p.S518S|TCF7L2_ENST00000536810.1_Silent_p.S518S|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000538897.1_3'UTR|TCF7L2_ENST00000369397.4_Silent_p.S512S|TCF7L2_ENST00000542695.1_Silent_p.S251S			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	535					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.S512S(1)|p.S518S(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)		AGCCTCTGTCGCTGTCCCTGA	0.667			T	VTI1A	colorectal																																p.S495S			Dom	yes		10	10q25.3	6934	transcription factor 7-like 2		E	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1485A	10						.						64.0	71.0	69.0					10																	114925476		2203	4300	6503	114915466	SO:0001819	synonymous_variant	6934	exon13			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.1605G>A	10.37:g.114925476G>A			114915466	NM_001146285	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																																																																																					0.667	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756	
VWA2	340706	broad.mit.edu	37	10	116049123	116049123	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr10:116049123G>T	ENST00000392982.3	+	12	2247	c.1997G>T	c.(1996-1998)gGc>gTc	p.G666V	VWA2_ENST00000603594.1_Missense_Mutation_p.G666V			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	666	VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)	p.G666V(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		TTGGTCGTGGGCGTGGGGCCT	0.637																																					p.G666V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1997T	10						.						154.0	111.0	126.0					10																	116049123		2203	4300	6503	116039113	SO:0001583	missense	340706	exon12			AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.1997G>T	10.37:g.116049123G>T	ENSP00000376708:p.Gly666Val		116039113	NM_198496	A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Missense_Mutation	SNP	ENST00000392982.3	37		.	.	.	.	.	.	.	.	.	.	G	12.49	1.954197	0.34471	.	.	ENSG00000165816	ENST00000392982;ENST00000298715	D	0.91792	-2.91	5.25	4.29	0.51040	von Willebrand factor, type A (3);	0.256697	0.37348	N	0.002128	D	0.94525	0.8237	M	0.87456	2.885	0.42906	D	0.994244	P;B;P	0.47841	0.901;0.427;0.526	P;B;B	0.52454	0.699;0.221;0.195	D	0.94961	0.8108	10	0.66056	D	0.02	.	11.5407	0.50665	0.0:0.1409:0.7304:0.1287	.	362;666;666	Q5GFL6-3;Q5GFL6;Q5GFL6-2	.;VWA2_HUMAN;.	V	666	ENSP00000376708:G666V	ENSP00000298715:G666V	G	+	2	0	VWA2	116039113	1.000000	0.71417	0.993000	0.49108	0.571000	0.35966	4.603000	0.61105	2.429000	0.82318	0.563000	0.77884	GGC		0.637	VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050456.3	NM_198496	
ATRNL1	26033	broad.mit.edu	37	10	116930920	116930920	+	Silent	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr10:116930920T>C	ENST00000355044.3	+	8	1344	c.1218T>C	c.(1216-1218)ggT>ggC	p.G406G	ATRNL1_ENST00000529665.1_3'UTR|ATRNL1_ENST00000527407.1_Missense_Mutation_p.V377A	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	406					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.G406G(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TTGGACATGGTCAGCAGTATG	0.363																																					p.G406G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1218C	10						.						203.0	189.0	193.0					10																	116930920		2203	4300	6503	116920910	SO:0001819	synonymous_variant	26033	exon8			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.1218T>C	10.37:g.116930920T>C			116920910	NM_207303	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	CCDS7592.1																																																																																				0.363	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349	
DHTKD1	55526	broad.mit.edu	37	10	12123486	12123486	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr10:12123486C>T	ENST00000263035.4	+	2	232	c.170C>T	c.(169-171)gCc>gTc	p.A57V		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	57					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.A57V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CATGGCCTTGCCAGGTTGGTG	0.413																																					p.A57V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C170T	10						.						150.0	141.0	144.0					10																	12123486		2203	4300	6503	12163492	SO:0001583	missense	55526	exon2			BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.170C>T	10.37:g.12123486C>T	ENSP00000263035:p.Ala57Val		12163492	NM_018706	Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	C	6.774	0.511754	0.12944	.	.	ENSG00000181192	ENST00000263035;ENST00000437298	T;T	0.17528	3.56;2.27	4.88	4.88	0.63580	.	0.054274	0.64402	D	0.000001	T	0.14141	0.0342	N	0.17723	0.515	0.58432	D	0.999997	B	0.18310	0.027	B	0.14023	0.01	T	0.05517	-1.0880	10	0.56958	D	0.05	.	18.052	0.89353	0.0:1.0:0.0:0.0	.	57	Q96HY7	DHTK1_HUMAN	V	57	ENSP00000263035:A57V;ENSP00000388163:A57V	ENSP00000263035:A57V	A	+	2	0	DHTKD1	12163492	1.000000	0.71417	1.000000	0.80357	0.502000	0.33828	4.331000	0.59273	2.267000	0.75376	0.655000	0.94253	GCC		0.413	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706	
INPP5F	22876	broad.mit.edu	37	10	121557023	121557023	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr10:121557023T>C	ENST00000361976.2	+	8	1085	c.919T>C	c.(919-921)Tat>Cat	p.Y307H	INPP5F_ENST00000369083.3_Missense_Mutation_p.Y307H	NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0	5-phosphatase.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.Y307H(1)		breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		TGTTGCCAATTATGTGGAGAC	0.368																																					p.Y307H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T919C	10						.						109.0	96.0	101.0					10																	121557023		2203	4300	6503	121547013	SO:0001583	missense	22876	exon8			AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.919T>C	10.37:g.121557023T>C	ENSP00000354519:p.Tyr307His		121547013	NM_014937	A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000361976.2	37	CCDS7616.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.541705	0.85917	.	.	ENSG00000198825	ENST00000361976;ENST00000369083	T;T	0.57907	0.37;0.37	5.65	5.65	0.86999	Synaptojanin, N-terminal (2);	0.120448	0.64402	D	0.000017	T	0.68220	0.2977	M	0.67517	2.055	0.80722	D	1	D	0.61080	0.989	P	0.60345	0.873	T	0.71424	-0.4597	10	0.66056	D	0.02	-21.0193	16.1611	0.81712	0.0:0.0:0.0:1.0	.	307	Q9Y2H2	SAC2_HUMAN	H	307	ENSP00000354519:Y307H;ENSP00000358079:Y307H	ENSP00000354519:Y307H	Y	+	1	0	INPP5F	121547013	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.581000	0.67471	2.272000	0.75746	0.460000	0.39030	TAT		0.368	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1	NM_014937	
WDR11	55717	broad.mit.edu	37	10	122624604	122624604	+	Silent	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr10:122624604G>T	ENST00000263461.6	+	6	1005	c.759G>T	c.(757-759)ctG>ctT	p.L253L		NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0					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.L253L(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						TGGCATACCTGCCTTCAAAAA	0.393																																					p.L253L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G759T	10						.						155.0	150.0	152.0					10																	122624604		2203	4300	6503	122614594	SO:0001819	synonymous_variant	55717	exon6			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.759G>T	10.37:g.122624604G>T			122614594	NM_018117	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	ENST00000263461.6	37	CCDS7619.1																																																																																				0.393	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2		
MMP21	118856	broad.mit.edu	37	10	127464246	127464246	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr10:127464246C>T	ENST00000368808.3	-	1	144	c.145G>A	c.(145-147)Gac>Aac	p.D49N		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	49					hematopoietic progenitor cell differentiation (GO:0002244)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D49N(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)			Marimastat(DB00786)	GCGTGGAGGTCGGCAATGGGC	0.682																																					p.D49N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G145A	10						.						93.0	69.0	77.0					10																	127464246		2203	4300	6503	127454236	SO:0001583	missense	118856	exon1			AF331526	CCDS7647.1	10q26.3	2008-07-28	2005-08-08		ENSG00000154485	ENSG00000154485			14357	protein-coding gene	gene with protein product		608416	"""matrix metalloproteinase 21"""			11255011	Standard	NM_147191		Approved		uc001liu.3	Q8N119	OTTHUMG00000019235	ENST00000368808.3:c.145G>A	10.37:g.127464246C>T	ENSP00000357798:p.Asp49Asn		127454236	NM_147191	Q5VZP9|Q8NG02	Missense_Mutation	SNP	ENST00000368808.3	37	CCDS7647.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.296102	0.23650	.	.	ENSG00000154485	ENST00000368808	T	0.40476	1.03	4.15	3.24	0.37175	Peptidoglycan binding-like (2);	0.134868	0.46145	N	0.000307	T	0.36138	0.0956	L	0.61218	1.895	0.37448	D	0.914695	B	0.29886	0.26	B	0.26517	0.07	T	0.30119	-0.9989	10	0.25751	T	0.34	-17.1255	9.9407	0.41578	0.0:0.8975:0.0:0.1025	.	49	Q8N119	MMP21_HUMAN	N	49	ENSP00000357798:D49N	ENSP00000357798:D49N	D	-	1	0	MMP21	127454236	0.985000	0.35326	0.688000	0.30117	0.252000	0.25951	2.786000	0.47790	0.951000	0.37770	0.563000	0.77884	GAC		0.682	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050928.1		
FANK1	92565	broad.mit.edu	37	10	127677179	127677179	+	Missense_Mutation	SNP	G	G	A	rs139083336	byFrequency	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr10:127677179G>A	ENST00000368693.1	+	3	355	c.251G>A	c.(250-252)cGc>cAc	p.R84H	FANK1_ENST00000368689.1_Missense_Mutation_p.R78H|FANK1_ENST00000368695.1_Missense_Mutation_p.R78H|FANK1_ENST00000449042.2_Missense_Mutation_p.R78H			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	84	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R84H(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				TACAGATTTCGCCTGAAGGTC	0.522													G|||	4	0.000798722	0.003	0.0	5008	,	,		19787	0.0		0.0	False		,,,				2504	0.0				p.R84H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G251A	10						.	G	HIS/ARG	15,4391	22.3+/-47.3	0,15,2188	229.0	206.0	214.0		251	5.3	1.0	10	dbSNP_134	214	0,8600		0,0,4300	yes	missense	FANK1	NM_145235.3	29	0,15,6488	AA,AG,GG		0.0,0.3404,0.1153	probably-damaging	84/346	127677179	15,12991	2203	4300	6503	127667169	SO:0001583	missense	92565	exon3			BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	23527	protein-coding gene	gene with protein product		611640	"""fibronectin type 3 and ankyrin repeat domains 1"""			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.251G>A	10.37:g.127677179G>A	ENSP00000357682:p.Arg84His		127667169	NM_145235	Q6UXY9|Q6X7T6	Missense_Mutation	SNP	ENST00000368693.1	37	CCDS31309.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	20.9	4.063259	0.76187	0.003404	0.0	ENSG00000203780	ENST00000368695;ENST00000368693;ENST00000449042;ENST00000417114;ENST00000445510;ENST00000368691;ENST00000368689;ENST00000368692	T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18	5.29	5.29	0.74685	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000006	T	0.56761	0.2007	L	0.57536	1.79	0.49051	D	0.999741	D;D;P;P	0.89917	1.0;0.96;0.824;0.731	D;P;B;B	0.67103	0.949;0.505;0.424;0.163	T	0.57608	-0.7782	10	0.72032	D	0.01	-14.9129	17.8568	0.88767	0.0:0.0:1.0:0.0	.	78;84;84;84	B7Z939;Q8TC84-3;Q8TC84-2;Q8TC84	.;.;.;FANK1_HUMAN	H	78;84;78;78;78;78;78;84	ENSP00000357684:R78H;ENSP00000357682:R84H;ENSP00000411388:R78H;ENSP00000396356:R78H;ENSP00000415719:R78H;ENSP00000357680:R78H;ENSP00000357678:R78H	ENSP00000357678:R78H	R	+	2	0	FANK1	127667169	0.987000	0.35691	0.987000	0.45799	0.986000	0.74619	2.604000	0.46274	2.743000	0.94032	0.650000	0.86243	CGC		0.522	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145235	
LARP4B	23185	broad.mit.edu	37	10	858970	858970	+	Missense_Mutation	SNP	C	C	A	rs140540635		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr10:858970C>A	ENST00000316157.3	-	17	2153	c.2113G>T	c.(2113-2115)Gcc>Tcc	p.A705S	LARP4B_ENST00000469487.1_5'Flank	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	705					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)	p.A705S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TCTCTGGGGGCTCCAGGTGTG	0.657																																					p.A705S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2113T	10						.						37.0	42.0	40.0					10																	858970		2202	4300	6502	848970	SO:0001583	missense	23185	exon17			D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.2113G>T	10.37:g.858970C>A	ENSP00000326128:p.Ala705Ser		848970	NM_015155	A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	ENST00000316157.3	37	CCDS31131.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.95|12.95	2.090931|2.090931	0.36855|0.36855	.|.	.|.	ENSG00000107929|ENSG00000107929	ENST00000316157|ENST00000448368	T|.	0.30714|.	1.52|.	6.07|6.07	3.16|3.16	0.36331|0.36331	.|.	0.766103|.	0.13406|.	N|.	0.390218|.	T|T	0.20292|0.20292	0.0488|0.0488	N|N	0.08118|0.08118	0|0	0.20307|0.20307	N|N	0.999912|0.999912	B|.	0.18968|.	0.032|.	B|.	0.15484|.	0.013|.	T|T	0.22138|0.22138	-1.0225|-1.0225	10|5	0.66056|.	D|.	0.02|.	0.0107|0.0107	10.8902|10.8902	0.46992|0.46992	0.0796:0.3744:0.5461:0.0|0.0796:0.3744:0.5461:0.0	.|.	705|.	Q92615|.	LAR4B_HUMAN|.	S|I	705|305	ENSP00000326128:A705S|.	ENSP00000326128:A705S|.	A|S	-|-	1|2	0|0	LARP4B|LARP4B	848970|848970	0.999000|0.999000	0.42202|0.42202	0.999000|0.999000	0.59377|0.59377	0.955000|0.955000	0.61496|0.61496	3.719000|3.719000	0.54926|0.54926	0.869000|0.869000	0.35703|0.35703	0.655000|0.655000	0.94253|0.94253	GCC|AGC		0.657	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155	
CUBN	8029	broad.mit.edu	37	10	16996515	16996515	+	Silent	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr10:16996515G>A	ENST00000377833.4	-	32	4793	c.4728C>T	c.(4726-4728)cgC>cgT	p.R1576R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1576	CUB 10. {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.R1576R(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)	TCCTGGCAAGGCGGGACATTG	0.517																																					p.R1576R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4728T	10						.						84.0	63.0	70.0					10																	16996515		2203	4300	6503	17036521	SO:0001819	synonymous_variant	8029	exon32			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.4728C>T	10.37:g.16996515G>A			17036521	NM_001081	B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	CCDS7113.1																																																																																				0.517	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	
ARMC4	55130	broad.mit.edu	37	10	28101481	28101481	+	Missense_Mutation	SNP	C	C	T	rs375622560		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr10:28101481C>T	ENST00000305242.5	-	20	3187	c.3095G>A	c.(3094-3096)cGc>cAc	p.R1032H	ARMC4_ENST00000545014.1_Missense_Mutation_p.A598T|ARMC4_ENST00000537576.1_Intron	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	1032					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.R1032H(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						AGCCAGCCTGCGGATATTGGA	0.458																																					p.R1032H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3095A	10						.	C	HIS/ARG	0,4406		0,0,2203	111.0	109.0	109.0		3095	5.7	1.0	10		109	1,8599	1.2+/-3.3	0,1,4299	no	missense	ARMC4	NM_018076.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1032/1045	28101481	1,13005	2203	4300	6503	28141487	SO:0001583	missense	55130	exon20			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.3095G>A	10.37:g.28101481C>T	ENSP00000306410:p.Arg1032His		28141487	NM_018076	A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	CCDS7157.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.00|17.00	3.275815|3.275815	0.59649|0.59649	0.0|0.0	1.16E-4|1.16E-4	ENSG00000169126|ENSG00000169126	ENST00000545014|ENST00000305242	T|D	0.58060|0.95069	0.36|-3.6	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|0.119890	.|0.56097	.|D	.|0.000021	D|D	0.97601|0.97601	0.9214|0.9214	M|M	0.85299|0.85299	2.745|2.745	0.80722|0.80722	D|D	1|1	P|D	0.41710|0.89917	0.76|1.0	B|D	0.24974|0.91635	0.057|0.999	D|D	0.98036|0.98036	1.0379|1.0379	9|10	0.62326|0.87932	D|D	0.03|0	-6.9906|-6.9906	19.3331|19.3331	0.94299|0.94299	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	598|1032	B7Z7I1|Q5T2S8	.|ARMC4_HUMAN	T|H	598|1032	ENSP00000441076:A598T|ENSP00000306410:R1032H	ENSP00000441076:A598T|ENSP00000306410:R1032H	A|R	-|-	1|2	0|0	ARMC4|ARMC4	28141487|28141487	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.923000|5.923000	0.70045|0.70045	2.648000|2.648000	0.89879|0.89879	0.650000|0.650000	0.86243|0.86243	GCA|CGC		0.458	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076	
ARMC4	55130	broad.mit.edu	37	10	28151442	28151442	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr10:28151442T>C	ENST00000305242.5	-	18	2812	c.2720A>G	c.(2719-2721)aAc>aGc	p.N907S	ARMC4_ENST00000545014.1_Missense_Mutation_p.N432S|ARMC4_ENST00000537576.1_Missense_Mutation_p.N599S	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	907					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.N907S(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TTTTGCTATGTTGGTAATGGC	0.353																																					p.N907S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2720G	10						.						164.0	145.0	151.0					10																	28151442		2203	4300	6503	28191448	SO:0001583	missense	55130	exon18			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.2720A>G	10.37:g.28151442T>C	ENSP00000306410:p.Asn907Ser		28191448	NM_018076	A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	T	14.26	2.483587	0.44147	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	D;D;D	0.95447	-3.71;-3.71;-3.71	5.9	3.53	0.40419	Armadillo-like helical (1);Armadillo-type fold (1);	0.244415	0.47455	D	0.000237	D	0.91798	0.7405	L	0.29908	0.895	0.80722	D	1	P;P	0.47409	0.895;0.895	B;P	0.45071	0.313;0.468	D	0.88879	0.3338	10	0.45353	T	0.12	-32.7188	10.4341	0.44424	0.0:0.1326:0.0:0.8674	.	432;907	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	S	599;907;432	ENSP00000443208:N599S;ENSP00000306410:N907S;ENSP00000441076:N432S	ENSP00000306410:N907S	N	-	2	0	ARMC4	28191448	1.000000	0.71417	0.986000	0.45419	0.990000	0.78478	4.127000	0.57944	0.466000	0.27193	0.528000	0.53228	AAC		0.353	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076	
SVIL	6840	broad.mit.edu	37	10	29821788	29821788	+	Missense_Mutation	SNP	G	G	T	rs143302930		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr10:29821788G>T	ENST00000355867.4	-	8	2260	c.1508C>A	c.(1507-1509)cCg>cAg	p.P503Q	SVIL_ENST00000375398.2_Missense_Mutation_p.P503Q|SVIL_ENST00000375400.3_Intron	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	503					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.P503Q(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GGGCTGGTGCGGAGCTTGAGG	0.532																																					p.P503Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1508A	10						.						116.0	112.0	113.0					10																	29821788		2203	4300	6503	29861794	SO:0001583	missense	6840	exon8			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.1508C>A	10.37:g.29821788G>T	ENSP00000348128:p.Pro503Gln		29861794	NM_021738	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	g	0.189	-1.055002	0.01965	.	.	ENSG00000197321	ENST00000375398;ENST00000355867	T;T	0.30182	1.54;1.54	5.62	1.99	0.26369	.	0.503267	0.19329	N	0.116926	T	0.04407	0.0121	N	0.00092	-2.175	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.33879	-0.9851	9	.	.	.	-3.8891	1.9635	0.03391	0.1315:0.1414:0.1386:0.5885	.	503	O95425	SVIL_HUMAN	Q	503	ENSP00000364547:P503Q;ENSP00000348128:P503Q	.	P	-	2	0	SVIL	29861794	0.026000	0.19158	0.003000	0.11579	0.046000	0.14306	0.302000	0.19192	0.088000	0.17205	-0.259000	0.10710	CCG		0.532	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1		
ZNF438	220929	broad.mit.edu	37	10	31134276	31134276	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr10:31134276A>T	ENST00000361310.3	-	7	2430	c.2101T>A	c.(2101-2103)Tgg>Agg	p.W701R	ZNF438_ENST00000538351.2_Missense_Mutation_p.W652R|ZNF438_ENST00000452305.1_Missense_Mutation_p.W691R|ZNF438_ENST00000444692.2_Missense_Mutation_p.W691R|ZNF438_ENST00000413025.1_Missense_Mutation_p.W701R|ZNF438_ENST00000331737.6_Missense_Mutation_p.W691R|ZNF438_ENST00000375311.1_Missense_Mutation_p.W265R|ZNF438_ENST00000436087.2_Missense_Mutation_p.W701R|ZNF438_ENST00000442986.1_Missense_Mutation_p.W701R			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	701					negative regulation of transcription, DNA-templated (GO:0045892)|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.W701R(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TGCCTTTTCCAGTCGGGGCTA	0.537																																					p.W691R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2071A	10						.						86.0	75.0	79.0					10																	31134276		2203	4300	6503	31174282	SO:0001583	missense	220929	exon8			AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.2101T>A	10.37:g.31134276A>T	ENSP00000354663:p.Trp701Arg		31174282	NM_001143771	A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	ENST00000361310.3	37	CCDS7168.1	.	.	.	.	.	.	.	.	.	.	A	18.76	3.692136	0.68271	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351;ENST00000430896;ENST00000375311	T;T;T;T;T;T;T;T;T	0.14516	2.5;2.51;2.51;2.51;2.51;2.5;2.5;2.5;2.59	5.8	-0.769	0.11009	.	0.320506	0.41194	N	0.000925	T	0.11495	0.0280	M	0.62723	1.935	0.35270	D	0.780354	B;B	0.27140	0.105;0.169	B;B	0.28553	0.042;0.091	T	0.09314	-1.0680	10	0.72032	D	0.01	-1.0561	1.7747	0.03019	0.5406:0.1275:0.2094:0.1225	.	701;691	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	R	691;701;701;701;701;691;691;652;420;265	ENSP00000333571:W691R;ENSP00000354663:W701R;ENSP00000406934:W701R;ENSP00000412363:W701R;ENSP00000387546:W701R;ENSP00000413060:W691R;ENSP00000410898:W691R;ENSP00000445461:W652R;ENSP00000364460:W265R	ENSP00000333571:W691R	W	-	1	0	ZNF438	31174282	1.000000	0.71417	0.007000	0.13788	0.003000	0.03518	2.380000	0.44327	-0.373000	0.07979	0.533000	0.62120	TGG		0.537	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755	
PCDH15	65217	broad.mit.edu	37	10	55582281	55582281	+	Silent	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr10:55582281G>A	ENST00000320301.6	-	33	5599	c.5205C>T	c.(5203-5205)gcC>gcT	p.A1735A	PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000361849.3_Silent_p.A1737A|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395432.2_Silent_p.A1695A|PCDH15_ENST00000437009.1_Silent_p.A1666A|PCDH15_ENST00000395430.1_Silent_p.A1732A|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395433.1_Silent_p.A1712A|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395445.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1735					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.A1735A(2)|p.A1742A(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTGGTGGATGGGCAAAATTTT	0.463										HNSCC(58;0.16)																											p.A1695A												.	.	3	Substitution - coding silent(3)	large_intestine(2)|lung(1)	c.C5085T	10						.						35.0	36.0	36.0					10																	55582281		2203	4299	6502	55252287	SO:0001819	synonymous_variant	65217	exon31			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.5205C>T	10.37:g.55582281G>A			55252287	NM_001142767	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	CCDS7248.1																																																																																				0.463	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	
SPOCK2	9806	broad.mit.edu	37	10	73827452	73827452	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr10:73827452G>A	ENST00000373109.2	-	7	1072	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	SPOCK2_ENST00000317376.4_Missense_Mutation_p.R210W|SPOCK2_ENST00000536168.1_Missense_Mutation_p.R210W|SPOCK2_ENST00000460053.1_5'UTR	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	210					extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of cell differentiation (GO:0045595)|signal transduction (GO:0007165)|synapse assembly (GO:0007416)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)	p.R210W(1)		endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						TCCCGCAGCCGATCTCCCAGG	0.607																																					p.R210W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C628T	10						.						35.0	34.0	34.0					10																	73827452		2203	4300	6503	73497458	SO:0001583	missense	9806	exon8			AJ001453	CCDS7313.1, CCDS44431.1	10q22.1	2013-09-19			ENSG00000107742	ENSG00000107742			13564	protein-coding gene	gene with protein product		607988				10386950	Standard	NM_014767		Approved	KIAA0275, testican-2	uc001jso.2	Q92563	OTTHUMG00000018430	ENST00000373109.2:c.628C>T	10.37:g.73827452G>A	ENSP00000362201:p.Arg210Trp		73497458	NM_014767	C9J767|Q6UW87	Missense_Mutation	SNP	ENST00000373109.2	37	CCDS7313.1	.	.	.	.	.	.	.	.	.	.	G	31	5.071490	0.93950	.	.	ENSG00000107742	ENST00000373109;ENST00000317376;ENST00000536168	T;T	0.69175	-0.38;-0.38	5.82	4.89	0.63831	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.84356	0.5454	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87744	0.2587	10	0.87932	D	0	.	15.4999	0.75691	0.0:0.0:0.8562:0.1437	.	210	Q92563	TICN2_HUMAN	W	207;210;210	ENSP00000321108:R210W;ENSP00000439445:R210W	ENSP00000321108:R210W	R	-	1	2	SPOCK2	73497458	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.119000	0.64679	1.405000	0.46838	0.561000	0.74099	CGG		0.607	SPOCK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048560.2		
CFAP70	118491	broad.mit.edu	37	10	75038039	75038039	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr10:75038039G>A	ENST00000310715.3	-	21	2626	c.2506C>T	c.(2506-2508)Cag>Tag	p.Q836*	TTC18_ENST00000493787.1_Intron|TTC18_ENST00000355577.3_Nonsense_Mutation_p.Q305*|DNAJC9-AS1_ENST00000440197.2_RNA|RNU6-833P_ENST00000363486.1_RNA|TTC18_ENST00000394865.1_Nonsense_Mutation_p.Q836*|TTC18_ENST00000401621.2_Nonsense_Mutation_p.Q836*|TTC18_ENST00000340329.3_Intron	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		836						extracellular vesicular exosome (GO:0070062)		p.Q836*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					GAATCAGACTGCAGTTTGGAG	0.333																																					p.Q836X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2506T	10						.						143.0	141.0	142.0					10																	75038039		2203	4300	6503	74708045	SO:0001587	stop_gained	118491	exon21																														ENST00000310715.3:c.2506C>T	10.37:g.75038039G>A	ENSP00000310829:p.Gln836*		74708045	NM_145170	C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Nonsense_Mutation	SNP	ENST00000310715.3	37	CCDS7324.3	.	.	.	.	.	.	.	.	.	.	G	37	6.557822	0.97663	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000433268;ENST00000394865	.	.	.	4.65	3.75	0.43078	.	0.980022	0.08380	N	0.954719	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-1.6311	8.6998	0.34318	0.1041:0.0:0.8959:0.0	.	.	.	.	X	836;836;836;243;836	.	ENSP00000310829:Q836X	Q	-	1	0	TTC18	74708045	0.006000	0.16342	0.564000	0.28396	0.794000	0.44872	0.931000	0.28871	1.313000	0.45069	0.557000	0.71058	CAG		0.333	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
ZMIZ1	57178	broad.mit.edu	37	10	81058853	81058853	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr10:81058853C>T	ENST00000334512.5	+	16	2285	c.1713C>T	c.(1711-1713)ggC>ggT	p.G571G		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	571					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.G571G(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			TGCGGGATGGCGTGGTGCTGG	0.647																																					p.G571G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1713T	10						.						84.0	63.0	70.0					10																	81058853		2203	4300	6503	80728859	SO:0001819	synonymous_variant	57178	exon16			AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.1713C>T	10.37:g.81058853C>T			80728859	NM_020338	Q5JSH9|Q7Z7E6	Silent	SNP	ENST00000334512.5	37	CCDS7357.1																																																																																				0.647	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338	
ALDH18A1	5832	broad.mit.edu	37	10	97380888	97380888	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr10:97380888C>T	ENST00000371224.2	-	12	1504	c.1367G>A	c.(1366-1368)cGc>cAc	p.R456H	ALDH18A1_ENST00000371221.3_Missense_Mutation_p.R454H	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	456	Gamma-glutamyl phosphate reductase.				cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|glutamate metabolic process (GO:0006536)|L-proline biosynthetic process (GO:0055129)|ornithine biosynthetic process (GO:0006592)|proline biosynthetic process (GO:0006561)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate 5-kinase activity (GO:0004349)|glutamate-5-semialdehyde dehydrogenase activity (GO:0004350)|poly(A) RNA binding (GO:0044822)	p.R456H(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)		TCGGGTGCGGCGCAAAACACG	0.537																																					p.R454H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1361A	10						.						87.0	76.0	80.0					10																	97380888		2203	4300	6503	97370878	SO:0001583	missense	5832	exon12			X94453	CCDS7443.1, CCDS31257.1	10q24.3-q24.6	2004-08-12	2004-08-12	2004-08-12	ENSG00000059573	ENSG00000059573		"""Aldehyde dehydrogenases"""	9722	protein-coding gene	gene with protein product		138250	"""pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)"""	GSAS, PYCS		8921385	Standard	XM_006717933		Approved	P5CS	uc001kkz.3	P54886	OTTHUMG00000018815	ENST00000371224.2:c.1367G>A	10.37:g.97380888C>T	ENSP00000360268:p.Arg456His		97370878	NM_001017423	B2R5Q4|B7Z350|B7Z5X8|B7ZLP1|D3DR44|O95952|Q3KQU2|Q5T566|Q5T567|Q9UM72	Missense_Mutation	SNP	ENST00000371224.2	37	CCDS7443.1	.	.	.	.	.	.	.	.	.	.	C	32	5.186384	0.94885	.	.	ENSG00000059573	ENST00000371224;ENST00000371221	T;T	0.76578	-1.03;-1.03	5.55	5.55	0.83447	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);Gamma-glutamyl phosphate reductase GPR (1);	0.000000	0.85682	D	0.000000	D	0.88407	0.6428	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71870	0.975;0.958	D	0.89395	0.3691	10	0.87932	D	0	-15.436	17.3501	0.87321	0.0:1.0:0.0:0.0	.	456;454	P54886;P54886-2	P5CS_HUMAN;.	H	456;454	ENSP00000360268:R456H;ENSP00000360265:R454H	ENSP00000360265:R454H	R	-	2	0	ALDH18A1	97370878	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.334000	0.79224	2.773000	0.95371	0.650000	0.86243	CGC		0.537	ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049552.1	NM_002860	
MKI67	4288	broad.mit.edu	37	10	129921208	129921208	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr10:129921208A>G	ENST00000368654.3	-	4	599	c.224T>C	c.(223-225)gTt>gCt	p.V75A	MKI67_ENST00000368653.3_Missense_Mutation_p.V75A	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	75	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.V75A(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTCATCAATAACAGACCCATT	0.343																																					p.V75A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T224C	10						.						138.0	132.0	134.0					10																	129921208		2203	4300	6503	129811198	SO:0001583	missense	4288	exon4			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.224T>C	10.37:g.129921208A>G	ENSP00000357643:p.Val75Ala		129811198	NM_001145966	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	A	9.665	1.145295	0.21288	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	D;D	0.86230	-2.09;-2.09	4.66	0.568	0.17333	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.964229	0.08562	N	0.927327	T	0.68302	0.2986	N	0.03194	-0.395	0.09310	N	1	B;B	0.14805	0.002;0.011	B;B	0.23852	0.004;0.049	T	0.55082	-0.8196	9	.	.	.	.	3.8942	0.09131	0.3673:0.0:0.442:0.1907	.	75;75	P46013-2;P46013	.;KI67_HUMAN	A	75	ENSP00000357643:V75A;ENSP00000357642:V75A	.	V	-	2	0	MKI67	129811198	0.000000	0.05858	0.000000	0.03702	0.597000	0.36814	-0.159000	0.10056	-0.057000	0.13199	-0.462000	0.05337	GTT		0.343	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417	
EBF3	253738	broad.mit.edu	37	10	131666125	131666125	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr10:131666125delC	ENST00000355311.5	-	9	905	c.833delG	c.(832-834)ggtfs	p.G278fs	EBF3_ENST00000368648.3_Frame_Shift_Del_p.G269fs			Q9H4W6	COE3_HUMAN	early B-cell factor 3	278	IPT/TIG.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G269fs*6(2)|p.G278fs*6(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GACGGTGGCACCCCCCGTGGT	0.577																																					p.G269fs												.	.	3	Deletion - Frameshift(3)	large_intestine(3)	c.806delG	10						.						119.0	95.0	103.0					10																	131666125		2203	4300	6503	131556115	SO:0001589	frameshift_variant	253738	exon9				CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.833delG	10.37:g.131666125delC	ENSP00000347463:p.Gly278fs		131556115	NM_001005463	A0AUY1|Q5T6H9|Q9H4W5	Frame_Shift_Del	DEL	ENST00000355311.5	37																																																																																					0.577	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463	
C10orf71	118461	broad.mit.edu	37	10	50535030	50535030	+	3'UTR	DEL	T	T	-			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr10:50535030delT	ENST00000374144.3	+	0	4728				C10orf71_ENST00000323868.4_Frame_Shift_Del_p.L710fs			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71									p.F711fs*4(1)		endometrium(1)	1						ATACTTAGCCTTTTTAGATCC	0.522																																					p.L710fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2129delT	10						.						107.0	113.0	111.0					10																	50535030		2026	4162	6188	50205036	SO:0001624	3_prime_UTR_variant	118461	exon4			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.*132T>-	10.37:g.50535030delT			50205036	NM_199459	A0AVL8	Frame_Shift_Del	DEL	ENST00000374144.3	37	CCDS44387.1																																																																																				0.522	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459	
DNA2	1763	broad.mit.edu	37	10	70182521	70182521	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr10:70182521delA	ENST00000358410.3	-	15	2385	c.2335delT	c.(2335-2337)tcafs	p.S779fs	DNA2_ENST00000399180.2_Frame_Shift_Del_p.S865fs|DNA2_ENST00000399179.2_Intron	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	779	Helicase activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)	p.S779fs*6(1)|p.S865fs*6(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						AATCTCCGTGAAAAAAAAAGG	0.403																																					p.S865fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.2593delT	10						.			36,47,3383		0,0,36,2,43,1652	30.0	31.0	31.0			5.7	1.0	10		32	74,113,7597		0,0,74,8,97,3713	no	codingComplex	DNA2	NM_001080449.2		0,0,110,10,140,5365	A1A1,A1A2,A1R,A2A2,A2R,RR		2.4024,2.3947,2.4			70182521	110,160,10980	1797	4062	5859	69852527	SO:0001589	frameshift_variant	1763	exon15			D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"""DNA2 DNA replication helicase 2-like (yeast)"", ""DNA replication helicase 2 homolog (yeast)"""	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.2335delT	10.37:g.70182521delA	ENSP00000351185:p.Ser779fs		69852527	NM_001080449	Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Frame_Shift_Del	DEL	ENST00000358410.3	37																																																																																					0.403	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2		
PPP3CB	5532	broad.mit.edu	37	10	75227312	75227312	+	Splice_Site	DEL	T	T	-			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr10:75227312delT	ENST00000360663.5	-	9	1218	c.1107delA	c.(1105-1107)aaa>aa	p.K369fs	PPP3CB_ENST00000394822.2_Splice_Site_p.K387fs|PPP3CB_ENST00000545874.1_Splice_Site_p.K283fs|PPP3CB_ENST00000394828.2_Splice_Site_p.K369fs|PPP3CB_ENST00000342558.3_Splice_Site_p.K369fs|PPP3CB_ENST00000544628.1_5'Flank|PPP3CB_ENST00000394829.2_Splice_Site_p.K369fs|PPP3CB_ENST00000495897.1_5'UTR			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	369					axon extension (GO:0048675)|calcium ion-dependent exocytosis (GO:0017156)|cellular response to drug (GO:0035690)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|learning (GO:0007612)|locomotion involved in locomotory behavior (GO:0031987)|memory (GO:0007613)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of transcription, DNA-templated (GO:0045893)|protein dephosphorylation (GO:0006470)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)|social behavior (GO:0035176)|T cell activation (GO:0042110)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein phosphatase 2B binding (GO:0030346)|protein serine/threonine phosphatase activity (GO:0004722)	p.V33fs*1(1)|p.V370fs*1(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					aaattataCCTTTTTCTCCAA	0.313																																					p.K369fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.1107delA	10						.						31.0	30.0	30.0					10																	75227312		2197	4284	6481	74897318	SO:0001630	splice_region_variant	5532	exon9			M29551	CCDS7328.1, CCDS44436.1, CCDS44437.1	10q22.2	2010-03-17	2010-03-05		ENSG00000107758	ENSG00000107758	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9315	protein-coding gene	gene with protein product	"""calcineurin A beta"", ""protein phosphatase 2B, catalytic subunit, beta isoform"""	114106	"""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A beta)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform"""	CALNB		1659808, 2558868	Standard	XM_005269944		Approved	CALNA2, CNA2, PP2Bbeta	uc001juf.3	P16298	OTTHUMG00000018472	ENST00000360663.5:c.1108+1A>-	10.37:g.75227312delT			74897318	NM_001142353	P16299|Q5F2F9|Q8N1F0|Q8N3W4	Frame_Shift_Del	DEL	ENST00000360663.5	37	CCDS7328.1																																																																																				0.313	PPP3CB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048669.1	NM_021132	Frame_Shift_Del
DYNC2H1	79659	broad.mit.edu	37	11	103041639	103041639	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr11:103041639C>T	ENST00000375735.2	+	34	5320	c.5176C>T	c.(5176-5178)Cga>Tga	p.R1726*	DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.R1726*|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1726	AAA 1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GTCAATGGGACGAATATTTGT	0.333																																					p.R1726X												.	.	0			c.C5176T	11						.						195.0	172.0	179.0					11																	103041639		1829	4087	5916	102546849	SO:0001587	stop_gained	79659	exon34			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.5176C>T	11.37:g.103041639C>T	ENSP00000364887:p.Arg1726*		102546849	NM_001377	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Nonsense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	C	45	11.443144	0.99562	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	.	.	.	4.92	3.98	0.46160	.	1.177540	0.06574	N	0.749146	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3852	0.55328	0.4337:0.5663:0.0:0.0	.	.	.	.	X	1726	.	ENSP00000364887:R1726X	R	+	1	2	DYNC2H1	102546849	0.914000	0.31030	0.990000	0.47175	0.975000	0.68041	1.866000	0.39489	1.144000	0.42321	0.650000	0.86243	CGA		0.333	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	
DYNC2H1	79659	broad.mit.edu	37	11	103124085	103124085	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr11:103124085A>T	ENST00000375735.2	+	66	10258	c.10114A>T	c.(10114-10116)Aca>Tca	p.T3372S	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.T3379S|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3372	AAA 5. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.T812S(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CTTTTTGTCAACAAGAAACCC	0.373																																					p.T3372S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A10114T	11						.						104.0	101.0	102.0					11																	103124085		1833	4083	5916	102629295	SO:0001583	missense	79659	exon66			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.10114A>T	11.37:g.103124085A>T	ENSP00000364887:p.Thr3372Ser		102629295	NM_001377	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	29.3	4.994386	0.93167	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.28255	1.62;1.62	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.56529	0.1991	M	0.79343	2.45	0.80722	D	1	D;D	0.64830	0.994;0.993	D;P	0.65010	0.931;0.887	T	0.58741	-0.7583	10	0.54805	T	0.06	.	16.6512	0.85203	1.0:0.0:0.0:0.0	.	3372;3379	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	S	3372;3379	ENSP00000364887:T3372S;ENSP00000381167:T3379S	ENSP00000364887:T3372S	T	+	1	0	DYNC2H1	102629295	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.326000	0.96389	2.333000	0.79357	0.482000	0.46254	ACA		0.373	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	
DDI1	414301	broad.mit.edu	37	11	103908323	103908323	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr11:103908323T>C	ENST00000302259.3	+	1	1016	c.773T>C	c.(772-774)tTt>tCt	p.F258S	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	258							aspartic-type endopeptidase activity (GO:0004190)	p.F258S(2)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TTGAAGGCTTTTGTTGACTCG	0.507																																					p.F258S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T773C	11						.						98.0	104.0	102.0					11																	103908323		2202	4299	6501	103413533	SO:0001583	missense	414301	exon1				CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.773T>C	11.37:g.103908323T>C	ENSP00000302805:p.Phe258Ser		103413533	NM_001001711	Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	CCDS31660.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.020450	0.54576	.	.	ENSG00000170967	ENST00000302259	T	0.46451	0.87	5.21	5.21	0.72293	Peptidase aspartic (1);Peptidase aspartic, eukaryotic predicted (1);Peptidase aspartic, catalytic (1);	0.000000	0.85682	D	0.000000	T	0.71392	0.3334	M	0.92880	3.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78836	-0.2047	10	0.87932	D	0	-19.7729	13.3819	0.60773	0.0:0.0:0.0:1.0	.	258	Q8WTU0	DDI1_HUMAN	S	258	ENSP00000302805:F258S	ENSP00000302805:F258S	F	+	2	0	DDI1	103413533	1.000000	0.71417	0.904000	0.35570	0.009000	0.06853	7.333000	0.79214	2.326000	0.78906	0.533000	0.62120	TTT		0.507	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711	
CADM1	23705	broad.mit.edu	37	11	115111078	115111078	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr11:115111078T>G	ENST00000452722.3	-	2	207	c.187A>C	c.(187-189)Agt>Cgt	p.S63R	CADM1_ENST00000537058.1_Missense_Mutation_p.S63R|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000536727.1_Missense_Mutation_p.S63R|CADM1_ENST00000331581.6_Missense_Mutation_p.S63R|CADM1_ENST00000542447.2_Missense_Mutation_p.S63R	NM_014333.3	NP_055148.3			cell adhesion molecule 1									p.S63R(1)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		ACTTGGCAACTGATGGTCGCA	0.448																																					p.S63R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A187C	11						.						109.0	99.0	102.0					11																	115111078		2201	4296	6497	114616288	SO:0001583	missense	23705	exon2			AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.187A>C	11.37:g.115111078T>G	ENSP00000395359:p.Ser63Arg		114616288	NM_014333		Missense_Mutation	SNP	ENST00000452722.3	37	CCDS8373.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.2|26.2	4.718149|4.718149	0.89205|0.89205	.|.	.|.	ENSG00000182985|ENSG00000182985	ENST00000545380|ENST00000542447;ENST00000452722;ENST00000537058;ENST00000536727;ENST00000404468;ENST00000331581;ENST00000545094	.|T;T;T;T;T;T	.|0.65916	.|-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	5.97|5.97	5.97|5.97	0.96955|0.96955	.|Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69415|0.69415	0.3108|0.3108	L|L	0.35288|0.35288	1.05|1.05	0.80722|0.80722	D|D	1|1	.|D;D;D;P;D	.|0.89917	.|0.999;1.0;0.999;0.786;0.997	.|D;D;D;P;D	.|0.85130	.|0.994;0.997;0.996;0.771;0.992	T|T	0.64433|0.64433	-0.6409|-0.6409	5|10	.|0.18710	.|T	.|0.47	.|.	16.4461|16.4461	0.83932|0.83932	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|63;63;64;63;63	.|Q9BY67-2;F5H0J4;A4FVB5;Q9BY67;A0A4Z1	.|.;.;.;CADM1_HUMAN;.	P|R	61|63;63;63;63;22;63;30	.|ENSP00000439176:S63R;ENSP00000395359:S63R;ENSP00000439817:S63R;ENSP00000440322:S63R;ENSP00000329797:S63R;ENSP00000439696:S30R	.|ENSP00000329797:S63R	Q|S	-|-	2|1	0|0	CADM1|CADM1	114616288|114616288	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.665000|7.665000	0.83852|0.83852	2.285000|2.285000	0.76669|0.76669	0.528000|0.528000	0.53228|0.53228	CAG|AGT		0.448	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333	
DSCAML1	57453	broad.mit.edu	37	11	117403190	117403190	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr11:117403190C>T	ENST00000321322.6	-	4	740	c.739G>A	c.(739-741)Gta>Ata	p.V247I	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	187	Ig-like C2-type 3.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.V247I(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCCTTCTGTACGTCAGAGATG	0.542																																					p.V247I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G739A	11						.						110.0	95.0	100.0					11																	117403190		2201	4296	6497	116908400	SO:0001583	missense	57453	exon4				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.739G>A	11.37:g.117403190C>T	ENSP00000315465:p.Val247Ile		116908400	NM_020693	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480623	0.84747	.	.	ENSG00000177103	ENST00000321322	T	0.80653	-1.4	4.88	3.95	0.45737	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.88040	0.6330	M	0.72118	2.19	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.87239	0.2265	9	0.34782	T	0.22	.	15.1658	0.72825	0.0:0.8459:0.1541:0.0	.	187	Q8TD84	DSCL1_HUMAN	I	247	ENSP00000315465:V247I	ENSP00000315465:V247I	V	-	1	0	DSCAML1	116908400	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.847000	0.69451	1.378000	0.46305	0.655000	0.94253	GTA		0.542	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693	
CBL	867	broad.mit.edu	37	11	119145631	119145631	+	Silent	SNP	T	T	G	rs140250592		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr11:119145631T>G	ENST00000264033.4	+	5	1213	c.837T>G	c.(835-837)gcT>gcG	p.A279A		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	279	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|SH2-like.|Sufficient for interaction with EPHB1.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A279A(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		AAGTGAAAGCTCGGCTCCAGA	0.428			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																												p.A279A			"""Dom, Rec"""	yes		11	11q23.3	867	Cas-Br-M (murine) ecotropic retroviral transforming		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T837G	11						.						124.0	114.0	117.0					11																	119145631		2199	4295	6494	118650841	SO:0001819	synonymous_variant	867	exon5	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.837T>G	11.37:g.119145631T>G			118650841	NM_005188	A3KMP8	Silent	SNP	ENST00000264033.4	37	CCDS8418.1																																																																																				0.428	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188	
POU2F3	25833	broad.mit.edu	37	11	120173010	120173010	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr11:120173010T>C	ENST00000543440.2	+	6	527	c.377T>C	c.(376-378)cTc>cCc	p.L126P	POU2F3_ENST00000260264.4_Missense_Mutation_p.L128P	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	126					epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.L126P(1)		large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		CAGCCAAATCTCCTCCCCTTT	0.517											OREG0021420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L126P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T377C	11						.						157.0	132.0	141.0					11																	120173010		2203	4300	6503	119678220	SO:0001583	missense	25833	exon6			AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709		"""Homeoboxes / POU class"""	19864	protein-coding gene	gene with protein product		607394	"""POU domain class 2, transcription factor 3"""			10473598	Standard	NM_014352		Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000543440.2:c.377T>C	11.37:g.120173010T>C	ENSP00000441687:p.Leu126Pro	1501	119678220	NM_014352	A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Missense_Mutation	SNP	ENST00000543440.2	37	CCDS8431.1	.	.	.	.	.	.	.	.	.	.	T	18.14	3.557048	0.65425	.	.	ENSG00000137709	ENST00000543440;ENST00000260264;ENST00000533620	D;D;D	0.87491	-1.98;-1.96;-2.26	5.97	5.97	0.96955	.	0.289314	0.34725	N	0.003730	D	0.86981	0.6064	L	0.39245	1.2	0.80722	D	1	D;D	0.61080	0.989;0.989	P;P	0.55087	0.768;0.768	D	0.86343	0.1706	10	0.42905	T	0.14	.	10.5076	0.44842	0.1446:0.0:0.0:0.8553	.	80;126	E9PIN6;Q9UKI9	.;PO2F3_HUMAN	P	128;126;80	ENSP00000441687:L128P;ENSP00000260264:L126P;ENSP00000435738:L80P	ENSP00000260264:L126P	L	+	2	0	POU2F3	119678220	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.934000	0.56553	2.288000	0.76882	0.533000	0.62120	CTC		0.517	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388039.2		
POU2F3	25833	broad.mit.edu	37	11	120178198	120178198	+	Silent	SNP	G	G	A	rs377762447		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr11:120178198G>A	ENST00000543440.2	+	9	930	c.780G>A	c.(778-780)ccG>ccA	p.P260P	POU2F3_ENST00000260264.4_Silent_p.P262P	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	260					epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.P260P(2)		large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		AGTCCTCTCCGTCAGACCCCT	0.577																																					p.P260P												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.G780A	11						.			0,4406		0,0,2203	123.0	107.0	113.0		780	-7.8	0.3	11		113	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	POU2F3	NM_014352.3		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		260/437	120178198	1,13003	2203	4299	6502	119683408	SO:0001819	synonymous_variant	25833	exon9			AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709		"""Homeoboxes / POU class"""	19864	protein-coding gene	gene with protein product		607394	"""POU domain class 2, transcription factor 3"""			10473598	Standard	NM_014352		Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000543440.2:c.780G>A	11.37:g.120178198G>A			119683408	NM_014352	A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Silent	SNP	ENST00000543440.2	37	CCDS8431.1																																																																																				0.577	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388039.2		
GRIK4	2900	broad.mit.edu	37	11	120531044	120531044	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr11:120531044C>T	ENST00000527524.2	+	3	304	c.17C>T	c.(16-18)gCg>gTg	p.A6V	GRIK4_ENST00000438375.2_Missense_Mutation_p.A6V	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	6					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.A6V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		CGCGTCTCGGCGCCTTTGGTG	0.647											OREG0021424	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A6V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C17T	11						.						70.0	62.0	65.0					11																	120531044		2203	4299	6502	120036254	SO:0001583	missense	2900	exon1			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.17C>T	11.37:g.120531044C>T	ENSP00000435648:p.Ala6Val	1504	120036254	NM_014619	A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253108	0.59212	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.12465	2.68;2.68	5.55	4.63	0.57726	.	0.000000	0.64402	D	0.000009	T	0.06050	0.0157	N	0.08118	0	0.37509	D	0.917088	P;B	0.34587	0.458;0.102	B;B	0.20184	0.028;0.019	T	0.43589	-0.9382	10	0.20046	T	0.44	.	13.3882	0.60807	0.0:0.9224:0.0:0.0776	.	6;6	A6H8K8;Q16099	.;GRIK4_HUMAN	V	6	ENSP00000435648:A6V;ENSP00000404063:A6V	ENSP00000404063:A6V	A	+	2	0	GRIK4	120036254	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.202000	0.65169	1.467000	0.48044	0.563000	0.77884	GCG		0.647	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619	
TECTA	7007	broad.mit.edu	37	11	120996278	120996278	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr11:120996278C>T	ENST00000392793.1	+	8	1742	c.1471C>T	c.(1471-1473)Cgt>Tgt	p.R491C	TECTA_ENST00000264037.2_Missense_Mutation_p.R491C			O75443	TECTA_HUMAN	tectorin alpha	491	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.R491C(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AGAGAGCTGGCGTGTGTACCA	0.582																																					p.R491C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1471T	11						.						75.0	80.0	78.0					11																	120996278		2203	4299	6502	120501488	SO:0001583	missense	7007	exon7			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.1471C>T	11.37:g.120996278C>T	ENSP00000376543:p.Arg491Cys		120501488	NM_005422		Missense_Mutation	SNP	ENST00000392793.1	37	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835896	0.71373	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.38887	1.11;1.11	5.02	5.02	0.67125	von Willebrand factor, type D domain (1);	0.000000	0.85682	D	0.000000	T	0.66479	0.2793	M	0.83223	2.63	0.58432	D	0.999991	D	0.89917	1.0	D	0.85130	0.997	T	0.71484	-0.4579	10	0.87932	D	0	.	13.6504	0.62308	0.1548:0.8452:0.0:0.0	.	491	O75443	TECTA_HUMAN	C	491	ENSP00000376543:R491C;ENSP00000264037:R491C	ENSP00000264037:R491C	R	+	1	0	TECTA	120501488	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	2.249000	0.43169	2.511000	0.84671	0.563000	0.77884	CGT		0.582	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422	
MICAL2	9645	broad.mit.edu	37	11	12247779	12247779	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr11:12247779G>T	ENST00000256194.4	+	14	2038	c.1750G>T	c.(1750-1752)Gcc>Tcc	p.A584S	MICAL2_ENST00000537344.1_Missense_Mutation_p.A584S|MICAL2_ENST00000379612.3_Missense_Mutation_p.A584S|MICAL2_ENST00000342902.5_Missense_Mutation_p.A584S|MICAL2_ENST00000527546.1_Missense_Mutation_p.A584S	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	584	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)	p.A584S(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		ATTTGATGTGGCCGAGCGAGA	0.498																																					p.A584S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1750T	11						.						136.0	131.0	133.0					11																	12247779		2201	4294	6495	12204355	SO:0001583	missense	9645	exon14			AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.1750G>T	11.37:g.12247779G>T	ENSP00000256194:p.Ala584Ser		12204355	NM_014632	B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118778	0.77323	.	.	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97	5.28	5.28	0.74379	Calponin homology domain (5);	0.138027	0.48767	D	0.000171	D	0.88890	0.6560	M	0.85299	2.745	0.58432	D	0.999999	B;B;B;B;P	0.36944	0.293;0.204;0.324;0.204;0.574	P;P;P;P;D	0.64237	0.684;0.465;0.825;0.465;0.923	D	0.88838	0.3310	10	0.59425	D	0.04	.	18.526	0.90973	0.0:0.0:1.0:0.0	.	584;584;584;584;584	G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;MICA2_HUMAN	S	584;117;584;584;584;584	ENSP00000441689:A584S;ENSP00000256194:A584S;ENSP00000433965:A584S;ENSP00000344894:A584S;ENSP00000368932:A584S	ENSP00000256194:A584S	A	+	1	0	MICAL2	12204355	1.000000	0.71417	0.994000	0.49952	0.792000	0.44763	7.785000	0.85724	2.466000	0.83321	0.563000	0.77884	GCC		0.498	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632	
BLID	414899	broad.mit.edu	37	11	121986535	121986535	+	Silent	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr11:121986535G>T	ENST00000560104.1	-	1	388	c.96C>A	c.(94-96)gcC>gcA	p.A32A		NM_001001786.2	NP_001001786.2	Q8IZY5	BLID_HUMAN	BH3-like motif containing, cell death inducer	32					apoptotic process (GO:0006915)	mitochondrion (GO:0005739)		p.A32A(1)		NS(1)|large_intestine(4)|lung(6)|pancreas(1)	12		Breast(109;0.0164)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;2.08e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.101)		AACTGCCAGAGGCTCGCTCTA	0.468											OREG0021435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A32A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C96A	11						.						70.0	69.0	69.0					11																	121986535		2202	4299	6501	121491745	SO:0001819	synonymous_variant	414899	exon1			AF303179	CCDS31693.1	11q24.1	2007-06-22				ENSG00000259571			33495	protein-coding gene	gene with protein product	"""breast cancer cell 2"""	608853				15069058, 17220890	Standard	NM_001001786		Approved	BRCC2	uc001pyf.3	Q8IZY5		ENST00000560104.1:c.96C>A	11.37:g.121986535G>T		1515	121491745	NM_001001786	A1L416	Silent	SNP	ENST00000560104.1	37	CCDS31693.1																																																																																				0.468	BLID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387656.1	NM_001001786	
GRAMD1B	57476	broad.mit.edu	37	11	123484252	123484252	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr11:123484252C>T	ENST00000529750.1	+	15	2011	c.1684C>T	c.(1684-1686)Cgg>Tgg	p.R562W	GRAMD1B_ENST00000322282.7_Missense_Mutation_p.R562W|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.R569W|GRAMD1B_ENST00000450171.2_Missense_Mutation_p.R253W	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	562						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.R562W(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TACAACGGTGCGGAGGAGGAA	0.577																																					p.R562W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1684T	11						.						57.0	64.0	61.0					11																	123484252		2202	4295	6497	122989462	SO:0001583	missense	57476	exon15			AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.1684C>T	11.37:g.123484252C>T	ENSP00000436500:p.Arg562Trp		122989462	NM_020716	Q6UW85|Q9ULL9	Missense_Mutation	SNP	ENST00000529750.1	37	CCDS53720.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508416	0.64410	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000450171	T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82	5.28	3.3	0.37823	.	0.000000	0.85682	D	0.000000	T	0.47340	0.1440	M	0.76574	2.34	0.58432	D	0.999992	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.984;0.999;1.0	T	0.48375	-0.9041	10	0.72032	D	0.01	.	9.6262	0.39752	0.141:0.7853:0.0:0.0737	.	522;253;562;569	B7Z4N9;Q3KR37-3;Q3KR37;E7EPH8	.;.;GRM1B_HUMAN;.	W	569;569;562;562;522;253	ENSP00000402457:R569W;ENSP00000325628:R562W;ENSP00000436500:R562W;ENSP00000432987:R522W;ENSP00000388458:R253W	ENSP00000325628:R562W	R	+	1	2	GRAMD1B	122989462	0.996000	0.38824	0.977000	0.42913	0.698000	0.40448	3.083000	0.50136	1.240000	0.43803	0.561000	0.74099	CGG		0.577	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387404.2	XM_370660	
OR8D2	283160	broad.mit.edu	37	11	124189160	124189160	+	Nonstop_Mutation	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr11:124189160A>G	ENST00000357438.2	-	1	1024	c.934T>C	c.(934-936)Tga>Cga	p.*312R		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	0						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.*312R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		CCTCTTTGTCAGGATGACTGC	0.393																																					p.X312R												.	.	1	Nonstop extension(1)	large_intestine(1)	c.T934C	11						.						79.0	79.0	79.0					11																	124189160		2201	4298	6499	123694370	SO:0001578	stop_lost	283160	exon1			AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"""GPCR / Class A : Olfactory receptors"""	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.934T>C	11.37:g.124189160A>G	ENSP00000350022:p.*312Glyext*?		123694370	NM_001002918	B9EH49|Q6IFR0	Nonstop_Mutation	SNP	ENST00000357438.2	37	CCDS31707.1	.	.	.	.	.	.	.	.	.	.	a	4.092	0.015151	0.07959	.	.	ENSG00000197263	ENST00000357438	.	.	.	4.03	-0.185	0.13276	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.9482	0.03361	0.5777:0.1649:0.0975:0.1599	.	.	.	.	R	312	.	.	X	-	1	0	OR8D2	123694370	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	1.135000	0.31454	0.105000	0.17753	-0.441000	0.05720	TGA		0.393	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387286.1	NM_001002918	
CDON	50937	broad.mit.edu	37	11	125891299	125891299	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr11:125891299C>T	ENST00000392693.3	-	3	320	c.193G>A	c.(193-195)Gga>Aga	p.G65R	CDON_ENST00000263577.7_Missense_Mutation_p.G65R	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	65	Ig-like C2-type 1.				anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G65R(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		AATGTTTTTCCGTTATGCAGC	0.463																																					p.G65R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G193A	11						.						109.0	101.0	104.0					11																	125891299		2201	4299	6500	125396509	SO:0001583	missense	50937	exon3			AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.193G>A	11.37:g.125891299C>T	ENSP00000376458:p.Gly65Arg		125396509	NM_016952	O14631	Missense_Mutation	SNP	ENST00000392693.3	37	CCDS58192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.43|19.43	3.825710|3.825710	0.71143|0.71143	.|.	.|.	ENSG00000064309|ENSG00000064309	ENST00000392693;ENST00000263577;ENST00000531586;ENST00000527967;ENST00000534818|ENST00000534661	T;T;T;T;T|.	0.56103|.	0.48;0.48;0.48;0.48;0.48|.	5.66|5.66	5.66|5.66	0.87406|0.87406	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.50627|.	D|.	0.000114|.	D|D	0.87317|0.87317	0.6147|0.6147	M|M	0.93241|0.93241	3.395|3.395	0.47341|0.47341	D|D	0.999399|0.999399	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	D|D	0.89992|0.89992	0.4108|0.4108	10|5	0.87932|.	D|.	0|.	-18.9584|-18.9584	19.7554|19.7554	0.96287|0.96287	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	65;65;65|.	E9PRD8;Q4KMG0;Q4KMG0-2|.	.;CDON_HUMAN;.|.	R|Q	65|40	ENSP00000376458:G65R;ENSP00000263577:G65R;ENSP00000434212:G65R;ENSP00000436940:G65R;ENSP00000437176:G65R|.	ENSP00000263577:G65R|.	G|R	-|-	1|2	0|0	CDON|CDON	125396509|125396509	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.431000|0.431000	0.31685|0.31685	6.376000|6.376000	0.73141|0.73141	2.665000|2.665000	0.90641|0.90641	0.563000|0.563000	0.77884|0.77884	GGA|CGG		0.463	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952	
DCPS	28960	broad.mit.edu	37	11	126213223	126213223	+	Missense_Mutation	SNP	G	G	A	rs554435261		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr11:126213223G>A	ENST00000263579.4	+	5	987	c.658G>A	c.(658-660)Gcc>Acc	p.A220T	DCPS_ENST00000530860.1_3'UTR	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger	220					cellular response to menadione (GO:0036245)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA metabolic process (GO:0016071)|negative regulation of programmed cell death (GO:0043069)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	m7G(5')pppN diphosphatase activity (GO:0050072)|RNA 7-methylguanosine cap binding (GO:0000340)	p.A220T(1)		endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		GTACTTGATCGCCATCTGCCA	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		17489	0.0		0.0	False		,,,				2504	0.001				p.A220T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G658A	11						.						81.0	59.0	67.0					11																	126213223		2201	4298	6499	125718433	SO:0001583	missense	28960	exon5			AF077201	CCDS8473.1	11q24	2008-02-05			ENSG00000110063	ENSG00000110063			29812	protein-coding gene	gene with protein product		610534				12198172, 14523240	Standard	NM_014026		Approved	HSPC015, HINT-5, HSL1	uc001qdp.3	Q96C86	OTTHUMG00000165829	ENST00000263579.4:c.658G>A	11.37:g.126213223G>A	ENSP00000263579:p.Ala220Thr		125718433	NM_014026	Q8NHL8|Q9Y2S5	Missense_Mutation	SNP	ENST00000263579.4	37	CCDS8473.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.618201	0.66787	.	.	ENSG00000110063	ENST00000263579	D	0.96041	-3.89	5.31	3.47	0.39725	Histidine triad-like motif (1);	0.000000	0.85682	D	0.000000	D	0.97645	0.9228	M	0.89163	3.01	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97397	0.9993	10	0.56958	D	0.05	-16.1557	11.7889	0.52057	0.1409:0.0:0.8591:0.0	.	220	Q96C86	DCPS_HUMAN	T	220	ENSP00000263579:A220T	ENSP00000263579:A220T	A	+	1	0	DCPS	125718433	1.000000	0.71417	0.924000	0.36721	0.281000	0.26958	8.823000	0.92018	0.843000	0.35070	-0.136000	0.14681	GCC		0.602	DCPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386455.1	NM_014026	
KIRREL3	84623	broad.mit.edu	37	11	126294621	126294621	+	Missense_Mutation	SNP	C	C	T	rs119462980		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr11:126294621C>T	ENST00000525144.2	-	17	2440	c.2191G>A	c.(2191-2193)Gtc>Atc	p.V731I	KIRREL3_ENST00000416561.2_Missense_Mutation_p.V198I|KIRREL3_ENST00000529097.2_Missense_Mutation_p.V719I	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	731	Ser-rich.		V -> F (in MRD4). {ECO:0000269|PubMed:19012874}.		hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V690I(1)		central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CTGCTGCTGACGCTGCTGTCA	0.617																																					p.V731I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2191A	11	GRCh37	CM086842	KIRREL3	M	rs119462980	.						111.0	119.0	116.0					11																	126294621		2192	4288	6480	125799831	SO:0001583	missense	84623	exon17			AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.2191G>A	11.37:g.126294621C>T	ENSP00000435466:p.Val731Ile		125799831	NM_032531	Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Missense_Mutation	SNP	ENST00000525144.2	37	CCDS53723.1	.	.	.	.	.	.	.	.	.	.	C	9.457	1.092036	0.20471	.	.	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000416561	T;T;T	0.47528	0.84;0.84;0.84	4.88	3.97	0.46021	.	0.159376	0.42053	N	0.000770	T	0.27866	0.0686	N	0.14661	0.345	0.41148	D	0.986007	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.07046	-1.0793	10	0.18276	T	0.48	-17.4177	10.7077	0.45965	0.0:0.8409:0.0:0.1591	.	719;731	E9PRX9;Q8IZU9	.;KIRR3_HUMAN	I	731;719;198	ENSP00000435466:V731I;ENSP00000434081:V719I;ENSP00000408692:V198I	ENSP00000408692:V198I	V	-	1	0	KIRREL3	125799831	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.747000	0.47475	1.287000	0.44583	0.655000	0.94253	GTC		0.617	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531	
OR52J3	119679	broad.mit.edu	37	11	5068049	5068049	+	Silent	SNP	T	T	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr11:5068049T>G	ENST00000380370.1	+	1	294	c.294T>G	c.(292-294)gcT>gcG	p.A98A		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A98A(1)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTATGGAGCTTGTGTGGCCC	0.502																																					p.A98A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T294G	11						.						136.0	113.0	121.0					11																	5068049		2201	4298	6499	5024625	SO:0001819	synonymous_variant	119679	exon1			AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"""GPCR / Class A : Olfactory receptors"""	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.294T>G	11.37:g.5068049T>G			5024625	NM_001001916	Q6IFE4	Silent	SNP	ENST00000380370.1	37	CCDS31370.1																																																																																				0.502	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142807.1	NM_001001916	
DCHS1	8642	broad.mit.edu	37	11	6645550	6645550	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr11:6645550C>T	ENST00000299441.3	-	21	7768	c.7357G>A	c.(7357-7359)Gaa>Aaa	p.E2453K	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2453	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E2453K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTCGTGCTTCCAGCACCACA	0.597																																					p.E2453K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7357A	11						.						22.0	22.0	22.0					11																	6645550		2198	4296	6494	6602126	SO:0001583	missense	8642	exon21			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.7357G>A	11.37:g.6645550C>T	ENSP00000299441:p.Glu2453Lys		6602126	NM_003737	O15098	Missense_Mutation	SNP	ENST00000299441.3	37	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360559	0.82353	.	.	ENSG00000166341	ENST00000299441	T	0.60797	0.16	4.98	4.98	0.66077	Cadherin (4);Cadherin-like (1);	0.000000	0.42821	D	0.000652	T	0.65933	0.2739	L	0.45051	1.395	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.57774	-0.7753	10	0.07175	T	0.84	.	16.998	0.86373	0.0:1.0:0.0:0.0	.	2453	Q96JQ0	PCD16_HUMAN	K	2453	ENSP00000299441:E2453K	ENSP00000299441:E2453K	E	-	1	0	DCHS1	6602126	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.286000	0.78671	2.607000	0.88179	0.462000	0.41574	GAA		0.597	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737	
CYB5R2	51700	broad.mit.edu	37	11	7687751	7687751	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr11:7687751G>A	ENST00000533558.1	-	8	1145	c.589C>T	c.(589-591)Ctt>Ttt	p.L197F	CYB5R2_ENST00000299498.6_Missense_Mutation_p.L197F|CYB5R2_ENST00000299497.9_Missense_Mutation_p.L197F|CYB5R2_ENST00000528585.1_Intron|CYB5R2_ENST00000524790.1_Missense_Mutation_p.L197F			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	197					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.L197F(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)		ATTTCTTCAAGCTCTTTTCTG	0.522											OREG0020724	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L197F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C589T	11						.						159.0	146.0	150.0					11																	7687751		2201	4296	6497	7644327	SO:0001583	missense	51700	exon8			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.589C>T	11.37:g.7687751G>A	ENSP00000437041:p.Leu197Phe	643	7644327	NM_016229	Q9BVA3|Q9UF68|Q9UHJ0	Missense_Mutation	SNP	ENST00000533558.1	37	CCDS7780.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.825736	0.71143	.	.	ENSG00000166394	ENST00000524790;ENST00000299498;ENST00000533558;ENST00000299497	D;D;D;D	0.89681	-2.55;-2.55;-2.55;-2.55	5.59	3.74	0.42951	Oxidoreductase FAD/NAD(P)-binding (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.067420	0.64402	N	0.000009	D	0.94023	0.8085	M	0.85710	2.77	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.93523	0.6863	10	0.87932	D	0	-11.0903	10.289	0.43584	0.1606:0.0:0.8394:0.0	.	197	Q6BCY4	NB5R2_HUMAN	F	197	ENSP00000435916:L197F;ENSP00000299498:L197F;ENSP00000437041:L197F;ENSP00000299497:L197F	ENSP00000299497:L197F	L	-	1	0	CYB5R2	7644327	1.000000	0.71417	0.919000	0.36401	0.885000	0.51271	6.132000	0.71676	0.731000	0.32448	0.655000	0.94253	CTT		0.522	CYB5R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385679.1	NM_016229	
EIF3F	8665	broad.mit.edu	37	11	8016859	8016859	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr11:8016859A>G	ENST00000533626.1	+	9	1567	c.941A>G	c.(940-942)cAa>cGa	p.Q314R	EIF3F_ENST00000309828.4_Missense_Mutation_p.Q314R|EIF3F_ENST00000449102.2_Missense_Mutation_p.Q165R|EIF3F_ENST00000537635.1_Missense_Mutation_p.Q329R					eukaryotic translation initiation factor 3, subunit F									p.Q314R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTGGTTAACCAAGTACCGAAA	0.478																																					p.Q314R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A941G	11						.						245.0	240.0	242.0					11																	8016859		2201	4296	6497	7973435	SO:0001583	missense	8665	exon7			U94855, AK093511	CCDS7785.1	11p15.4	2010-03-10	2007-07-27	2007-07-27	ENSG00000175390	ENSG00000175390			3275	protein-coding gene	gene with protein product		603914	"""eukaryotic translation initiation factor 3, subunit 5 epsilon, 47kDa"""	EIF3S5		9341143	Standard	NM_003754		Approved	eIF3-epsilon, eIF3-p47, eIF3f	uc001mfw.3	O00303		ENST00000533626.1:c.941A>G	11.37:g.8016859A>G	ENSP00000431800:p.Gln314Arg		7973435	NM_003754		Missense_Mutation	SNP	ENST00000533626.1	37	CCDS7785.1	.	.	.	.	.	.	.	.	.	.	A	12.25	1.882961	0.33255	.	.	ENSG00000175390	ENST00000533626;ENST00000537635;ENST00000309828;ENST00000538607;ENST00000449102;ENST00000531572	T;T;T;T	0.41065	1.61;1.6;1.61;1.01	4.34	4.34	0.51931	.	0.053766	0.85682	D	0.000000	T	0.34308	0.0893	L	0.29908	0.895	0.47584	D	0.999465	B	0.28026	0.198	B	0.38225	0.268	T	0.09465	-1.0673	10	0.14252	T	0.57	.	12.1215	0.53893	1.0:0.0:0.0:0.0	.	314	O00303	EIF3F_HUMAN	R	314;329;314;264;165;55	ENSP00000431800:Q314R;ENSP00000442283:Q329R;ENSP00000310040:Q314R;ENSP00000396929:Q165R	ENSP00000310040:Q314R	Q	+	2	0	EIF3F	7973435	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.083000	0.94067	1.913000	0.55393	0.454000	0.30748	CAA		0.478	EIF3F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385713.2	NM_003754	
TUB	7275	broad.mit.edu	37	11	8118899	8118899	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr11:8118899G>A	ENST00000299506.2	+	7	961	c.812G>A	c.(811-813)cGg>cAg	p.R271Q	TUB_ENST00000534099.1_Missense_Mutation_p.R277Q|TUB_ENST00000305253.4_Missense_Mutation_p.R326Q	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	271					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)	p.R326Q(2)		breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		CGCATCACTCGGGACAAGAAA	0.562																																					p.R271Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G812A	11						.						108.0	102.0	104.0					11																	8118899		2201	4296	6497	8075475	SO:0001583	missense	7275	exon7			U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"""tubby (mouse) homolog"", ""tubby homolog (mouse)"""			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.812G>A	11.37:g.8118899G>A	ENSP00000299506:p.Arg271Gln		8075475	NM_177972	D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	ENST00000299506.2	37	CCDS7787.1	.	.	.	.	.	.	.	.	.	.	G	34	5.339987	0.95783	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.90788	-2.73;-2.73;-2.73	4.71	4.71	0.59529	Tubby, C-terminal (3);	0.047094	0.85682	D	0.000000	D	0.95790	0.8630	M	0.87097	2.86	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.996	D;P;P	0.69824	0.966;0.884;0.779	D	0.96391	0.9289	10	0.87932	D	0	-15.4132	18.1957	0.89820	0.0:0.0:1.0:0.0	.	277;271;326	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	Q	277;326;271	ENSP00000434400:R277Q;ENSP00000305426:R326Q;ENSP00000299506:R271Q	ENSP00000299506:R271Q	R	+	2	0	TUB	8075475	1.000000	0.71417	0.962000	0.40283	0.969000	0.65631	9.580000	0.98207	2.619000	0.88677	0.585000	0.79938	CGG		0.562	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385823.1	NM_003320	
ST5	6764	broad.mit.edu	37	11	8752517	8752517	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr11:8752517G>A	ENST00000534127.1	-	6	705	c.320C>T	c.(319-321)tCg>tTg	p.S107L	ST5_ENST00000530438.1_Intron|ST5_ENST00000313726.6_Missense_Mutation_p.S107L|ST5_ENST00000357665.1_Missense_Mutation_p.S107L|ST5_ENST00000526757.1_Intron	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	107					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.S107L(1)		NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CTTGCACGCCGAAGGGCTTCT	0.602																																					p.S107L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C320T	11						.						59.0	66.0	64.0					11																	8752517		2201	4296	6497	8709093	SO:0001583	missense	6764	exon6			U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.320C>T	11.37:g.8752517G>A	ENSP00000433528:p.Ser107Leu		8709093	NM_005418	B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.378921	0.42207	.	.	ENSG00000166444	ENST00000534127;ENST00000313726;ENST00000357665;ENST00000528523;ENST00000527930;ENST00000533681;ENST00000526241;ENST00000530959;ENST00000533580;ENST00000526155;ENST00000534248;ENST00000527347	T;T;T	0.07567	3.18;3.18;3.18	5.5	2.42	0.29668	.	2.088640	0.02596	N	0.100566	T	0.12732	0.0309	L	0.58101	1.795	0.46260	D	0.998959	B	0.06786	0.001	B	0.04013	0.001	T	0.20174	-1.0283	10	0.72032	D	0.01	-0.1093	7.6368	0.28272	0.1465:0.0:0.7224:0.1311	.	107	P78524	ST5_HUMAN	L	107;107;107;107;137;107;107;107;124;107;107;107	ENSP00000433528:S107L;ENSP00000319678:S107L;ENSP00000350294:S107L	ENSP00000319678:S107L	S	-	2	0	ST5	8709093	1.000000	0.71417	0.724000	0.30704	0.043000	0.13939	5.616000	0.67709	0.644000	0.30656	0.655000	0.94253	TCG		0.602	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418	
BTBD10	84280	broad.mit.edu	37	11	13427216	13427216	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr11:13427216T>G	ENST00000278174.5	-	7	1241	c.996A>C	c.(994-996)gaA>gaC	p.E332D	BTBD10_ENST00000530907.1_Missense_Mutation_p.E340D|BTBD10_ENST00000528120.1_Missense_Mutation_p.E284D	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	332	Interaction with AKT family members. {ECO:0000250|UniProtKB:Q80X66}.					nucleus (GO:0005634)		p.E332D(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		TTTGTGAATATTCTTCTCCCA	0.428																																					p.E332D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A996C	11						.						227.0	209.0	215.0					11																	13427216		2200	4294	6494	13383792	SO:0001583	missense	84280	exon7			AY221959	CCDS7811.1, CCDS73261.1	11p15.2	2013-01-24			ENSG00000148925	ENSG00000148925		"""BTB/POZ domain containing"""	21445	protein-coding gene	gene with protein product		615933				15556295	Standard	XM_005253164		Approved	GMRP1, GMRP-1, MGC13007	uc001mkz.3	Q9BSF8	OTTHUMG00000165787	ENST00000278174.5:c.996A>C	11.37:g.13427216T>G	ENSP00000278174:p.Glu332Asp		13383792	NM_032320	B7Z228|Q86WG1	Missense_Mutation	SNP	ENST00000278174.5	37	CCDS7811.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.153762	0.78114	.	.	ENSG00000148925	ENST00000278174;ENST00000530907;ENST00000528120	T;T;T	0.81078	-1.45;-1.45;-1.45	5.33	-4.29	0.03721	.	0.000000	0.85682	D	0.000000	T	0.82213	0.4988	L	0.43152	1.355	0.80722	D	1	D;D;D;D	0.63046	0.99;0.992;0.992;0.992	D;P;P;P	0.73380	0.98;0.897;0.897;0.897	T	0.79983	-0.1573	10	0.45353	T	0.12	-51.1285	14.2293	0.65879	0.0:0.3944:0.0:0.6056	.	301;340;332;332	B7Z2J1;B7Z228;D3DQW7;Q9BSF8	.;.;.;BTBDA_HUMAN	D	332;340;284	ENSP00000278174:E332D;ENSP00000431186:E340D;ENSP00000435257:E284D	ENSP00000278174:E332D	E	-	3	2	BTBD10	13383792	0.729000	0.28090	0.970000	0.41538	0.992000	0.81027	-0.077000	0.11394	-0.719000	0.04942	0.482000	0.46254	GAA		0.428	BTBD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386200.1	NM_032320	
KCNJ11	3767	broad.mit.edu	37	11	17408977	17408977	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr11:17408977C>T	ENST00000339994.4	-	1	1229	c.662G>A	c.(661-663)cGc>cAc	p.R221H	KCNJ11_ENST00000528731.1_Missense_Mutation_p.R134H|KCNJ11_ENST00000526747.1_5'Flank	NM_000525.3	NP_000516.3	Q14654	KCJ11_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	221					cellular response to glucose stimulus (GO:0071333)|cellular response to nicotine (GO:0071316)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|negative regulation of insulin secretion (GO:0046676)|neurological system process (GO:0050877)|positive regulation of cation channel activity (GO:2001259)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ischemia (GO:0002931)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	ATP-sensitive potassium channel complex (GO:0008282)|axolemma (GO:0030673)|cell body fiber (GO:0070852)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|ion channel binding (GO:0044325)|potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.R221H(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	Diazoxide(DB01119)|Glimepiride(DB00222)|Glyburide(DB01016)|Ibutilide(DB00308)|Levosimendan(DB00922)|Thiamylal(DB01154)|Verapamil(DB00661)|Yohimbine(DB01392)	GGTGGTCTTGCGTACCACCTG	0.652											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R221H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G662A	11						.						79.0	61.0	67.0					11																	17408977		2200	4293	6493	17365553	SO:0001583	missense	3767	exon1			D50582	CCDS31436.1, CCDS53606.1	11p15.1	2011-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6257	protein-coding gene	gene with protein product		600937				7502040, 16382105	Standard	NM_001166290		Approved	Kir6.2, BIR	uc001mna.3	Q14654		ENST00000339994.4:c.662G>A	11.37:g.17408977C>T	ENSP00000345708:p.Arg221His	717	17365553	NM_000525	B4DWI4|E9PNK0|Q2M1H7|Q58EX3|Q8IW96	Missense_Mutation	SNP	ENST00000339994.4	37	CCDS31436.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553367	0.65425	.	.	ENSG00000187486	ENST00000339994;ENST00000528731;ENST00000526912	D;D;D	0.94537	-3.45;-3.45;-3.45	5.29	5.29	0.74685	.	0.106592	0.64402	D	0.000017	D	0.96303	0.8794	M	0.76938	2.355	0.48040	D	0.999579	D	0.64830	0.994	D	0.65684	0.937	D	0.96022	0.9010	10	0.66056	D	0.02	.	9.3337	0.38038	0.0:0.8338:0.0:0.1662	.	221	B2RC52	.	H	221;134;134	ENSP00000345708:R221H;ENSP00000434755:R134H;ENSP00000432729:R134H	ENSP00000345708:R221H	R	-	2	0	KCNJ11	17365553	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.648000	0.46647	2.467000	0.83353	0.561000	0.74099	CGC		0.652	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387037.1	NM_000525	
IGSF22	283284	broad.mit.edu	37	11	18735522	18735522	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr11:18735522G>A	ENST00000513874.1	-	14	2111	c.1972C>T	c.(1972-1974)Cgc>Tgc	p.R658C	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	658	Ig-like 4.							p.R658C(1)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TCTTCCCCGCGCTCCATGGAC	0.597																																					p.R658C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1972T	11						.						114.0	120.0	118.0					11																	18735522		2196	4283	6479	18692098	SO:0001583	missense	283284	exon14			AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1972C>T	11.37:g.18735522G>A	ENSP00000421191:p.Arg658Cys		18692098	NM_173588	A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	37	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	G	10.89	1.477125	0.26511	.	.	ENSG00000179057	ENST00000513874	T	0.67523	-0.27	3.98	-1.51	0.08664	.	0.253493	0.18696	U	0.133721	T	0.51770	0.1694	N	0.24115	0.695	0.09310	N	1	D	0.67145	0.996	P	0.51101	0.659	T	0.47724	-0.9095	10	0.54805	T	0.06	.	3.6435	0.08176	0.4176:0.0:0.3019:0.2806	.	658	D6RGV7	.	C	658	ENSP00000421191:R658C	ENSP00000322422:R658C	R	-	1	0	IGSF22	18692098	0.005000	0.15991	0.012000	0.15200	0.145000	0.21501	0.784000	0.26816	0.053000	0.16036	0.448000	0.29417	CGC		0.597	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588	
NAV2	89797	broad.mit.edu	37	11	19735426	19735426	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr11:19735426T>C	ENST00000396087.3	+	1	284	c.185T>C	c.(184-186)gTg>gCg	p.V62A	NAV2_ENST00000349880.4_Missense_Mutation_p.V62A|NAV2_ENST00000396085.1_Missense_Mutation_p.V62A|NAV2_ENST00000360655.4_Intron|RP11-359E10.1_ENST00000603468.1_lincRNA	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	62					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.V62A(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AAATCGCAGGTGCTGCAGGGG	0.662																																					p.V62A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T185C	11						.						27.0	30.0	29.0					11																	19735426		2198	4293	6491	19692002	SO:0001583	missense	89797	exon1			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.185T>C	11.37:g.19735426T>C	ENSP00000379396:p.Val62Ala		19692002	NM_145117	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	T	5.655	0.305454	0.10678	.	.	ENSG00000166833	ENST00000396085;ENST00000349880;ENST00000396087	T;T;T	0.59224	0.28;0.28;0.28	0.427	-0.748	0.11087	.	.	.	.	.	T	0.29556	0.0737	N	0.08118	0	0.58432	D	0.999999	B	0.17852	0.024	B	0.10450	0.005	T	0.06463	-1.0825	7	.	.	.	.	.	.	.	.	62	Q8IVL1-3	.	A	62	ENSP00000379394:V62A;ENSP00000309577:V62A;ENSP00000379396:V62A	.	V	+	2	0	NAV2	19692002	0.098000	0.21812	0.973000	0.42090	0.955000	0.61496	-0.691000	0.05133	-0.455000	0.07054	-0.456000	0.05471	GTG		0.662	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117	
NAV2	89797	broad.mit.edu	37	11	19955767	19955767	+	Silent	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr11:19955767G>A	ENST00000396087.3	+	8	2145	c.2046G>A	c.(2044-2046)caG>caA	p.Q682Q	NAV2_ENST00000349880.4_Silent_p.Q659Q|NAV2_ENST00000540292.1_Silent_p.Q613Q|NAV2_ENST00000527559.2_Silent_p.Q611Q|NAV2_ENST00000396085.1_Silent_p.Q659Q|NAV2_ENST00000360655.4_Silent_p.Q595Q	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	682					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.Q682Q(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AGCTACCTCAGCCCCAGCAGC	0.577																																					p.Q595Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1785A	11						.						99.0	99.0	99.0					11																	19955767		2199	4293	6492	19912343	SO:0001819	synonymous_variant	89797	exon7			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.2046G>A	11.37:g.19955767G>A			19912343	NM_001111018	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	CCDS58126.1																																																																																				0.577	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117	
CHST1	8534	broad.mit.edu	37	11	45672137	45672137	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr11:45672137G>A	ENST00000308064.2	-	4	1007	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W	CHST1_ENST00000533673.1_5'Flank|RP11-495O11.1_ENST00000525563.1_RNA	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	113					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)	p.R113R(1)|p.R113W(1)		breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		ATGACCCGCCGGTCGGCCGGG	0.637																																					p.R113W												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(2)	c.C337T	11						.						34.0	45.0	41.0					11																	45672137		2199	4295	6494	45628713	SO:0001583	missense	8534	exon4			U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"""Sulfotransferases, membrane-bound"""	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.337C>T	11.37:g.45672137G>A	ENSP00000309270:p.Arg113Trp		45628713	NM_003654	D3DQP2	Missense_Mutation	SNP	ENST00000308064.2	37	CCDS7913.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.179228	0.57800	.	.	ENSG00000175264	ENST00000308064	D	0.83335	-1.71	4.98	2.83	0.33086	Sulfotransferase domain (1);	0.127248	0.53938	D	0.000057	D	0.90051	0.6893	M	0.73962	2.25	0.58432	D	0.999992	D	0.89917	1.0	D	0.85130	0.997	D	0.91165	0.4964	10	0.62326	D	0.03	-10.5733	15.3542	0.74415	0.0:0.0:0.658:0.342	.	113	O43916	CHST1_HUMAN	W	113	ENSP00000309270:R113W	ENSP00000309270:R113W	R	-	1	2	CHST1	45628713	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	0.557000	0.23454	1.067000	0.40740	0.462000	0.41574	CGG		0.637	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390127.1	NM_003654	
F2	2147	broad.mit.edu	37	11	46750931	46750931	+	Splice_Site	SNP	T	T	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr11:46750931T>G	ENST00000311907.5	+	12	1530	c.1474T>G	c.(1474-1476)Ttg>Gtg	p.L492V	F2_ENST00000530231.1_Splice_Site_p.L453V	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	492	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)	p.L492V(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	TCCCCAAAGCTTGCTCCAGGC	0.602																																					p.L492V	Esophageal Squamous(147;1147 1808 2148 38609 51144)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1474G	11						.						63.0	63.0	63.0					11																	46750931		2201	4299	6500	46707507	SO:0001630	splice_region_variant	2147	exon12			M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"""Endogenous ligands"""	3535	protein-coding gene	gene with protein product	"""prepro-coagulation factor II"""	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.1473-1T>G	11.37:g.46750931T>G			46707507	NM_000506	B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Missense_Mutation	SNP	ENST00000311907.5	37	CCDS31476.1	.	.	.	.	.	.	.	.	.	.	T	16.61	3.170811	0.57584	.	.	ENSG00000180210	ENST00000311907;ENST00000530231	D;D	0.92858	-2.44;-3.12	5.97	-0.221	0.13126	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.93439	0.7907	L	0.49455	1.56	0.37062	D	0.898106	D	0.89917	1.0	D	0.97110	1.0	D	0.92588	0.6080	10	0.87932	D	0	.	12.0919	0.53730	0.0:0.5735:0.0:0.4265	.	492	P00734	THRB_HUMAN	V	492;453	ENSP00000308541:L492V;ENSP00000433907:L453V	ENSP00000308541:L492V	L	+	1	2	F2	46707507	0.160000	0.22878	0.017000	0.16124	0.010000	0.07245	0.606000	0.24194	-0.273000	0.09246	0.533000	0.62120	TTG		0.602	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317706.1		Missense_Mutation
PACSIN3	29763	broad.mit.edu	37	11	47199529	47199529	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr11:47199529G>A	ENST00000539589.1	-	11	1570	c.1228C>T	c.(1228-1230)Cgc>Tgc	p.R410C	PACSIN3_ENST00000298838.6_Missense_Mutation_p.R410C|ARFGAP2_ENST00000426335.2_5'Flank|ARFGAP2_ENST00000395449.3_5'Flank|ARFGAP2_ENST00000319543.6_5'Flank|ARFGAP2_ENST00000524782.1_5'Flank|ARFGAP2_ENST00000419701.2_5'Flank	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	410	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endocytosis (GO:0045806)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|cytoskeletal protein binding (GO:0008092)|lipid binding (GO:0008289)	p.R410C(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						AGGCCAATGCGGCCACTCTGC	0.617																																					p.R410C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1228T	11						.						134.0	92.0	106.0					11																	47199529		2201	4298	6499	47156105	SO:0001583	missense	29763	exon11			AF130979	CCDS31481.1	11p12-p11	2008-02-05				ENSG00000165912			8572	protein-coding gene	gene with protein product	"""syndapin III"""	606513				10531379	Standard	NM_016223		Approved	SDPIII	uc001ndx.3	Q9UKS6		ENST00000539589.1:c.1228C>T	11.37:g.47199529G>A	ENSP00000440945:p.Arg410Cys		47156105	NM_016223	A6NH84|Q9H331|Q9NWV9	Missense_Mutation	SNP	ENST00000539589.1	37	CCDS31481.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172153	0.78452	.	.	ENSG00000165912	ENST00000298838;ENST00000539589	T;T	0.50813	0.73;0.73	5.0	4.08	0.47627	Src homology-3 domain (5);	0.177651	0.48286	D	0.000193	T	0.63873	0.2548	M	0.75150	2.29	0.48236	D	0.99961	D	0.76494	0.999	P	0.57846	0.828	T	0.70583	-0.4832	10	0.87932	D	0	-22.3028	15.1712	0.72875	0.0:0.0:0.8579:0.1421	.	410	Q9UKS6	PACN3_HUMAN	C	410	ENSP00000298838:R410C;ENSP00000440945:R410C	ENSP00000298838:R410C	R	-	1	0	PACSIN3	47156105	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	2.873000	0.48475	1.235000	0.43724	0.561000	0.74099	CGC		0.617	PACSIN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391632.1	NM_016223	
OR5D13	390142	broad.mit.edu	37	11	55541043	55541043	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr11:55541043A>G	ENST00000361760.1	+	1	130	c.130A>G	c.(130-132)Aac>Gac	p.N44D		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N44D(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGTAGTGGGGAACTTGGGCAT	0.403																																					p.N44D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A130G	11						.						160.0	150.0	154.0					11																	55541043		2200	4296	6496	55297619	SO:0001583	missense	390142	exon1			BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.130A>G	11.37:g.55541043A>G	ENSP00000354800:p.Asn44Asp		55297619	NM_001001967	Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	A	18.37	3.608643	0.66558	.	.	ENSG00000198877	ENST00000361760	T	0.75704	-0.96	3.52	3.52	0.40303	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36628	U	0.002482	D	0.88973	0.6583	H	0.95850	3.73	0.31684	N	0.64271	D	0.89917	1.0	D	0.70227	0.968	D	0.90368	0.4378	10	0.87932	D	0	-15.036	11.3563	0.49617	1.0:0.0:0.0:0.0	.	44	Q8NGL4	OR5DD_HUMAN	D	44	ENSP00000354800:N44D	ENSP00000354800:N44D	N	+	1	0	OR5D13	55297619	1.000000	0.71417	0.010000	0.14722	0.030000	0.12068	7.942000	0.87708	1.626000	0.50381	0.398000	0.26397	AAC		0.403	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967	
OR5R1	219479	broad.mit.edu	37	11	56185469	56185469	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr11:56185469C>A	ENST00000312253.1	-	1	239	c.240G>T	c.(238-240)aaG>aaT	p.K80N		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K80N(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					TCACCATCATCTTCGGTGTAA	0.438																																					p.K80N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G240T	11						.						124.0	110.0	115.0					11																	56185469		2201	4296	6497	55942045	SO:0001583	missense	219479	exon1			AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.240G>T	11.37:g.56185469C>A	ENSP00000308595:p.Lys80Asn		55942045	NM_001004744		Missense_Mutation	SNP	ENST00000312253.1	37	CCDS31530.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.575008	0.45902	.	.	ENSG00000174942	ENST00000312253	T	0.09350	2.99	5.78	0.669	0.17918	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34200	U	0.004180	T	0.24661	0.0598	M	0.76002	2.32	0.22330	N	0.999191	D	0.89917	1.0	D	0.91635	0.999	T	0.03807	-1.1002	10	0.48119	T	0.1	-9.6974	4.8382	0.13474	0.0:0.3736:0.1527:0.4737	.	80	Q8NH85	OR5R1_HUMAN	N	80	ENSP00000308595:K80N	ENSP00000308595:K80N	K	-	3	2	OR5R1	55942045	0.000000	0.05858	0.902000	0.35471	0.589000	0.36550	-0.615000	0.05597	0.088000	0.17205	0.478000	0.44815	AAG		0.438	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744	
MS4A6A	64231	broad.mit.edu	37	11	59947310	59947310	+	Silent	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr11:59947310G>A	ENST00000530839.1	-	4	768	c.276C>T	c.(274-276)ccC>ccT	p.P92P	MS4A6A_ENST00000532169.1_Silent_p.P92P|MS4A6A_ENST00000323961.3_Silent_p.P92P|MS4A6A_ENST00000528851.1_Silent_p.P92P|MS4A6A_ENST00000529054.1_Silent_p.P120P|MS4A6A_ENST00000533023.1_Intron|MS4A6A_ENST00000529906.1_5'UTR|MS4A6A_ENST00000426738.2_Intron|MS4A6A_ENST00000412309.2_Silent_p.P120P|MS4A6A_ENST00000420732.2_Silent_p.P92P	NM_152852.2	NP_690591.1	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	92						integral component of membrane (GO:0016021)		p.P92P(1)		endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCACAAAAAAGGGTCCTATGA	0.463																																					p.P92P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C276T	11						.						78.0	74.0	75.0					11																	59947310		2201	4295	6496	59703886	SO:0001819	synonymous_variant	64231	exon3			AB013104	CCDS7981.1, CCDS44615.1, CCDS44616.1, CCDS58134.1	11q12.1	2008-03-25			ENSG00000110077	ENSG00000110077			13375	protein-coding gene	gene with protein product		606548		MS4A6		11245982, 11401424	Standard	NM_152852		Approved	CD20L3	uc010rla.2	Q9H2W1	OTTHUMG00000167241	ENST00000530839.1:c.276C>T	11.37:g.59947310G>A			59703886	NM_152851	A8K755|F8W9K1|Q7Z4E8|Q8TBV7|Q8TEZ4|Q8TEZ5|Q96PG6|Q9H2L1|Q9H2N3|Q9H3V1|Q9HC76	Silent	SNP	ENST00000530839.1	37	CCDS7981.1																																																																																				0.463	MS4A6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393848.1		
PPP1R32	220004	broad.mit.edu	37	11	61258018	61258018	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr11:61258018C>A	ENST00000338608.2	+	13	1379	c.1254C>A	c.(1252-1254)agC>agA	p.S418R	PPP1R32_ENST00000366212.4_Missense_Mutation_p.S48R|PPP1R32_ENST00000432063.2_Missense_Mutation_p.S398R|PPP1R32_ENST00000538185.1_Missense_Mutation_p.S95R	NM_145017.2	NP_659454.2	Q7Z5V6	PPR32_HUMAN	protein phosphatase 1, regulatory subunit 32	418							phosphatase binding (GO:0019902)	p.S418R(1)									CACCTCACAGCAGCCGCTGCG	0.622																																					p.S418R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1254A	11						.						158.0	141.0	147.0					11																	61258018		2202	4299	6501	61014594	SO:0001583	missense	220004	exon13			AK057333	CCDS8008.1, CCDS53641.1	11q12.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000162148	ENSG00000162148		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	28869	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 66"""	C11orf66		12477932	Standard	NM_145017		Approved	IIIG9, FLJ32771	uc001nru.2	Q7Z5V6	OTTHUMG00000168176	ENST00000338608.2:c.1254C>A	11.37:g.61258018C>A	ENSP00000344140:p.Ser418Arg		61014594	NM_145017	Q4G0P4|Q96M77	Missense_Mutation	SNP	ENST00000338608.2	37	CCDS8008.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.978500	0.53720	.	.	ENSG00000162148	ENST00000432063;ENST00000338608;ENST00000542951;ENST00000535545;ENST00000366212;ENST00000538185	T;T;T;T;T;T	0.54071	0.87;1.47;1.41;1.25;0.59;0.79	4.77	2.9	0.33743	.	0.395622	0.21747	N	0.069727	T	0.54415	0.1857	L	0.50333	1.59	0.09310	N	1	P;D	0.64830	0.95;0.994	P;P	0.54924	0.571;0.764	T	0.43669	-0.9377	10	0.45353	T	0.12	-8.8404	7.3384	0.26623	0.0:0.7963:0.0:0.2037	.	398;418	Q7Z5V6-2;Q7Z5V6	.;PPR32_HUMAN	R	398;418;169;130;48;95	ENSP00000391560:S398R;ENSP00000344140:S418R;ENSP00000441053:S169R;ENSP00000437511:S130R;ENSP00000439468:S48R;ENSP00000444387:S95R	ENSP00000344140:S418R	S	+	3	2	C11orf66	61014594	0.000000	0.05858	0.056000	0.19401	0.126000	0.20510	0.112000	0.15479	0.438000	0.26450	0.561000	0.74099	AGC		0.622	PPP1R32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398621.1	NM_145017	
NPAS4	266743	broad.mit.edu	37	11	66191317	66191317	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr11:66191317C>T	ENST00000311034.2	+	7	1132	c.956C>T	c.(955-957)gCc>gTc	p.A319V		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	319					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.A319V(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GACATGGAAGCCTGGAGCCTC	0.552																																					p.A319V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C956T	11						.						70.0	72.0	71.0					11																	66191317		2200	4295	6495	65947893	SO:0001583	missense	266743	exon7			AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.956C>T	11.37:g.66191317C>T	ENSP00000311196:p.Ala319Val		65947893	NM_178864	B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.190971	0.78789	.	.	ENSG00000174576	ENST00000311034	T	0.49139	0.79	4.71	4.71	0.59529	.	0.000000	0.52532	D	0.000078	T	0.56156	0.1966	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.52616	-0.8552	10	0.35671	T	0.21	-11.4551	15.5371	0.76013	0.0:1.0:0.0:0.0	.	319	Q8IUM7	NPAS4_HUMAN	V	319	ENSP00000311196:A319V	ENSP00000311196:A319V	A	+	2	0	NPAS4	65947893	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.280000	0.72626	2.607000	0.88179	0.561000	0.74099	GCC		0.552	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864	
FOLR2	2350	broad.mit.edu	37	11	71929673	71929673	+	Silent	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr11:71929673A>G	ENST00000298223.6	+	2	232	c.45A>G	c.(43-45)gtA>gtG	p.V15V	FOLR2_ENST00000454954.2_Intron|FOLR2_ENST00000449475.2_Silent_p.V32V	NM_000803.4|NM_001113534.1|NM_001113535.1|NM_001113536.1	NP_000794.3|NP_001107006.1|NP_001107007.1|NP_001107008.1	P14207	FOLR2_HUMAN	folate receptor 2 (fetal)	15					folic acid transport (GO:0015884)	anchored component of external side of plasma membrane (GO:0031362)|extracellular region (GO:0005576)|membrane (GO:0016020)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)	p.V15V(1)		breast(3)|large_intestine(3)|ovary(1)|skin(1)	8					Folic Acid(DB00158)	TGGTCTGTGTAGCCACCATGT	0.542																																					p.V15V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A45G	11						.						119.0	81.0	94.0					11																	71929673		2200	4293	6493	71607321	SO:0001819	synonymous_variant	2350	exon2			AK222539	CCDS8212.1	11q13.3-q14.1	2010-04-08			ENSG00000165457	ENSG00000165457			3793	protein-coding gene	gene with protein product		136425				1133088, 7698003	Standard	NM_000803		Approved		uc009ytf.3	P14207	OTTHUMG00000150394	ENST00000298223.6:c.45A>G	11.37:g.71929673A>G			71607321	NM_001113536	Q05CA5|Q6GTE8	Silent	SNP	ENST00000298223.6	37	CCDS8212.1																																																																																				0.542	FOLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317923.2	NM_000803	
CHRDL2	25884	broad.mit.edu	37	11	74414407	74414407	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr11:74414407C>T	ENST00000376332.3	-	8	1385	c.889G>A	c.(889-891)Gag>Aag	p.E297K	CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Missense_Mutation_p.E297K	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	297	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)		p.E297K(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CAGGGGTACTCGGTGGGACAG	0.657																																					p.E297K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G889A	11						.						55.0	47.0	50.0					11																	74414407		2200	4293	6493	74092055	SO:0001583	missense	25884	exon8			AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.889G>A	11.37:g.74414407C>T	ENSP00000365510:p.Glu297Lys		74092055	NM_015424	A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Missense_Mutation	SNP	ENST00000376332.3	37		.	.	.	.	.	.	.	.	.	.	C	11.79	1.743574	0.30865	.	.	ENSG00000054938	ENST00000263671;ENST00000376332;ENST00000376323;ENST00000393519	T;T	0.61742	0.08;0.08	5.75	3.86	0.44501	von Willebrand factor, type C (4);	0.386813	0.29348	N	0.012404	T	0.38268	0.1034	L	0.41710	1.295	0.30134	N	0.804577	B;P	0.34892	0.053;0.474	B;B	0.23574	0.026;0.047	T	0.32824	-0.9892	10	0.08599	T	0.76	-11.2617	9.3739	0.38270	0.0:0.7692:0.1505:0.0803	.	297;297	Q6WN34;Q6WN34-2	CRDL2_HUMAN;.	K	297;297;183;181	ENSP00000263671:E297K;ENSP00000365510:E297K	ENSP00000263671:E297K	E	-	1	0	CHRDL2	74092055	0.996000	0.38824	0.987000	0.45799	0.020000	0.10135	2.887000	0.48586	0.753000	0.32945	0.561000	0.74099	GAG		0.657	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1		
RSF1	51773	broad.mit.edu	37	11	77412541	77412541	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr11:77412541C>T	ENST00000308488.6	-	6	2035	c.1733G>A	c.(1732-1734)cGc>cAc	p.R578H	RSF1_ENST00000360355.2_Missense_Mutation_p.R547H|RSF1_ENST00000480887.1_Missense_Mutation_p.R326H			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	578					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)	p.R578H(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			GATTGGTGGGCGCTTATCCTT	0.408																																					p.R578H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1733A	11						.						195.0	197.0	196.0					11																	77412541		2200	4292	6492	77090189	SO:0001583	missense	51773	exon6			AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.1733G>A	11.37:g.77412541C>T	ENSP00000311513:p.Arg578His		77090189	NM_016578	Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Missense_Mutation	SNP	ENST00000308488.6	37	CCDS8253.1	.	.	.	.	.	.	.	.	.	.	C	9.302	1.053254	0.19907	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355;ENST00000526324;ENST00000528095	D;D;D;D;T	0.85013	-1.93;-1.93;-1.93;-1.93;1.51	5.23	1.66	0.24008	.	0.232873	0.31010	N	0.008432	T	0.65523	0.2699	N	0.11560	0.145	0.19945	N	0.999941	B	0.06786	0.001	B	0.01281	0.0	T	0.51028	-0.8757	10	0.30854	T	0.27	-0.0447	3.9582	0.09399	0.4487:0.3045:0.0:0.2468	.	578	Q96T23	RSF1_HUMAN	H	578;326;547;379;577	ENSP00000311513:R578H;ENSP00000434509:R326H;ENSP00000353511:R547H;ENSP00000432022:R379H;ENSP00000436408:R577H	ENSP00000311513:R578H	R	-	2	0	RSF1	77090189	0.000000	0.05858	0.982000	0.44146	0.977000	0.68977	0.279000	0.18771	0.138000	0.18790	0.655000	0.94253	CGC		0.408	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578	
DDIAS	220042	broad.mit.edu	37	11	82641316	82641316	+	Splice_Site	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr11:82641316G>A	ENST00000533655.1	+	5	605	c.393G>A	c.(391-393)acG>acA	p.T131T	C11orf82_ENST00000524921.1_Intron|C11orf82_ENST00000525361.1_Splice_Site_p.T131T|C11orf82_ENST00000329143.3_Intron|C11orf82_ENST00000525388.1_Intron|C11orf82_ENST00000430323.2_Splice_Site_p.T131T|C11orf82_ENST00000528759.1_Intron|C11orf82_ENST00000533750.1_3'UTR	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		131					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.T131T(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						TTGGAGTGACGGTAATTGAGA	0.303																																					p.T131T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G393A	11						.						89.0	88.0	88.0					11																	82641316		2202	4299	6501	82318964	SO:0001630	splice_region_variant	220042	exon5																														ENST00000533655.1:c.393+1G>A	11.37:g.82641316G>A			82318964	NM_145018	Q96LK6|Q9H856	Silent	SNP	ENST00000533655.1	37	CCDS8263.1																																																																																				0.303	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1		Silent
PCF11	51585	broad.mit.edu	37	11	82880562	82880562	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr11:82880562G>T	ENST00000298281.4	+	8	3637	c.3185G>T	c.(3184-3186)aGa>aTa	p.R1062I		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	1062	Gly-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|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 factor complex (GO:0005849)|nucleoplasm (GO:0005654)		p.R1062I(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						CCAGGTCCTAGATTTGAAAGG	0.493																																					p.R1062I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3185T	11						.						81.0	78.0	79.0					11																	82880562		1961	4141	6102	82558210	SO:0001583	missense	51585	exon8			AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.3185G>T	11.37:g.82880562G>T	ENSP00000298281:p.Arg1062Ile		82558210	NM_015885	A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308686	0.81247	.	.	ENSG00000165494	ENST00000298281	T	0.34275	1.37	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000006	T	0.55337	0.1914	L	0.54323	1.7	0.53688	D	0.99997	D	0.65815	0.995	P	0.62014	0.897	T	0.42565	-0.9444	9	.	.	.	-15.6882	20.3811	0.98930	0.0:0.0:1.0:0.0	.	1062	O94913	PCF11_HUMAN	I	1062	ENSP00000298281:R1062I	.	R	+	2	0	PCF11	82558210	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.274000	0.58921	2.821000	0.97095	0.650000	0.86243	AGA		0.493	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885	
CCDC81	60494	broad.mit.edu	37	11	86119199	86119199	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr11:86119199C>G	ENST00000445632.2	+	9	1272	c.1000C>G	c.(1000-1002)Caa>Gaa	p.Q334E	CCDC81_ENST00000278487.3_Intron|CCDC81_ENST00000528728.1_Intron|CCDC81_ENST00000354755.1_Missense_Mutation_p.Q244E	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	334								p.Q244E(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)				GCAACGAGCACAACGAAATTC	0.388																																					p.Q244E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C730G	11						.						103.0	92.0	96.0					11																	86119199		2202	4299	6501	85796847	SO:0001583	missense	60494	exon8			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.1000C>G	11.37:g.86119199C>G	ENSP00000415528:p.Gln334Glu		85796847	NM_021827	A0AVL7|Q53FW3|Q9H5E5	Missense_Mutation	SNP	ENST00000445632.2	37	CCDS53691.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.934635	0.52866	.	.	ENSG00000149201	ENST00000354755;ENST00000445632	T;T	0.42900	0.96;0.96	5.04	4.09	0.47781	.	0.000000	0.64402	D	0.000003	T	0.58075	0.2097	L	0.61036	1.89	0.80722	D	1	D;P	0.71674	0.998;0.525	D;B	0.65684	0.937;0.197	T	0.57860	-0.7738	9	.	.	.	-7.0068	13.378	0.60750	0.1592:0.8408:0.0:0.0	.	334;244	Q6ZN84;Q6ZN84-2	CCD81_HUMAN;.	E	244;334	ENSP00000346800:Q244E;ENSP00000415528:Q334E	.	Q	+	1	0	CCDC81	85796847	0.932000	0.31603	0.841000	0.33234	0.903000	0.53119	3.033000	0.49743	1.048000	0.40298	0.563000	0.77884	CAA		0.388	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393756.1	NM_021827	
MED17	9440	broad.mit.edu	37	11	93545134	93545134	+	Silent	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr11:93545134G>A	ENST00000251871.3	+	12	2147	c.1860G>A	c.(1858-1860)ggG>ggA	p.G620G		NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	620					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.G620G(1)		large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ATCTTCGTGGGCCATTCAAAG	0.368																																					p.G620G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1860A	11						.						145.0	149.0	148.0					11																	93545134		2201	4298	6499	93184782	SO:0001819	synonymous_variant	9440	exon12			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.1860G>A	11.37:g.93545134G>A			93184782	NM_004268	B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Silent	SNP	ENST00000251871.3	37	CCDS8295.1																																																																																				0.368	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394800.2	NM_004268	
HEPHL1	341208	broad.mit.edu	37	11	93800820	93800820	+	Missense_Mutation	SNP	G	G	A	rs183813405		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr11:93800820G>A	ENST00000315765.9	+	5	975	c.967G>A	c.(967-969)Gtc>Atc	p.V323I		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	323	Plastocyanin-like 2.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.V324I(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GACTGATGTCGTCAACCTGTT	0.473													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19031	0.0		0.0	False		,,,				2504	0.0				p.V323I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G967A	11						.						159.0	156.0	157.0					11																	93800820		1980	4162	6142	93440468	SO:0001583	missense	341208	exon5			BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.967G>A	11.37:g.93800820G>A	ENSP00000313699:p.Val323Ile		93440468	NM_001098672	Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	CCDS44710.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	0.020	-1.448109	0.01080	.	.	ENSG00000181333	ENST00000315765	D	0.99758	-6.65	5.5	3.65	0.41850	Cupredoxin (2);Multicopper oxidase, type 2 (1);	0.116733	0.64402	D	0.000014	D	0.97294	0.9115	N	0.12471	0.22	0.26602	N	0.973002	B	0.32324	0.364	B	0.22880	0.042	D	0.95522	0.8595	10	0.02654	T	1	.	9.757	0.40508	0.2437:0.0:0.7563:0.0	.	323	Q6MZM0	HPHL1_HUMAN	I	323	ENSP00000313699:V323I	ENSP00000313699:V323I	V	+	1	0	HEPHL1	93440468	0.020000	0.18652	0.701000	0.30321	0.343000	0.28985	0.214000	0.17541	0.826000	0.34661	-1.073000	0.02249	GTC		0.473	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947	
CNTN5	53942	broad.mit.edu	37	11	99715827	99715827	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr11:99715827G>T	ENST00000524871.1	+	6	700	c.410G>T	c.(409-411)cGa>cTa	p.R137L	CNTN5_ENST00000418526.2_Missense_Mutation_p.R63L|CNTN5_ENST00000528682.1_Missense_Mutation_p.R137L|CNTN5_ENST00000527185.1_Missense_Mutation_p.R137L|CNTN5_ENST00000279463.3_Missense_Mutation_p.R137L	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	137	Ig-like C2-type 1.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.R137Q(1)|p.R137L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGATGGCTTCGAAATGGAACA	0.353																																					p.R63L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G188T	11						.						97.0	87.0	90.0					11																	99715827		1831	4092	5923	99221037	SO:0001583	missense	53942	exon5			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.410G>T	11.37:g.99715827G>T	ENSP00000435637:p.Arg137Leu		99221037	NM_175566	A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	G	5.881	0.346774	0.11126	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	5.53	5.53	0.82687	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.210160	0.35151	N	0.003415	T	0.24275	0.0588	N	0.10782	0.045	0.48762	D	0.999707	B;B;B	0.13145	0.002;0.005;0.007	B;B;B	0.15870	0.006;0.003;0.014	T	0.13522	-1.0506	10	0.02654	T	1	.	18.4469	0.90688	0.0:0.0:1.0:0.0	.	137;63;137	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	L	137;137;137;63;137	ENSP00000433575:R137L;ENSP00000436185:R137L;ENSP00000435637:R137L;ENSP00000393229:R63L;ENSP00000279463:R137L	ENSP00000279463:R137L	R	+	2	0	CNTN5	99221037	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.046000	0.76592	2.597000	0.87782	0.650000	0.86243	CGA		0.353	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361	
CNTN5	53942	broad.mit.edu	37	11	99941215	99941215	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr11:99941215C>T	ENST00000524871.1	+	11	1512	c.1222C>T	c.(1222-1224)Cga>Tga	p.R408*	CNTN5_ENST00000418526.2_Nonsense_Mutation_p.R334*|CNTN5_ENST00000528682.1_Nonsense_Mutation_p.R408*|CNTN5_ENST00000527185.1_Nonsense_Mutation_p.R408*|CNTN5_ENST00000279463.3_Nonsense_Mutation_p.R408*	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	408	Ig-like C2-type 4.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.R408*(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GAGCCCTCTCCGATGGGAATG	0.458																																					p.R334X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1000T	11						.						85.0	83.0	83.0					11																	99941215		1882	4111	5993	99446425	SO:0001587	stop_gained	53942	exon10			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.1222C>T	11.37:g.99941215C>T	ENSP00000435637:p.Arg408*		99446425	NM_175566	A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Nonsense_Mutation	SNP	ENST00000524871.1	37	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	C	38	6.670318	0.97751	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	.	.	.	5.97	2.73	0.32206	.	0.127211	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	15.8716	0.79122	0.3589:0.6411:0.0:0.0	.	.	.	.	X	408;408;408;334;408	.	ENSP00000279463:R408X	R	+	1	2	CNTN5	99446425	0.071000	0.21146	0.015000	0.15790	0.897000	0.52465	1.693000	0.37742	0.833000	0.34828	0.650000	0.86243	CGA		0.458	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361	
CCDC15	80071	broad.mit.edu	37	11	124845049	124845049	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr11:124845049delA	ENST00000344762.5	+	5	833	c.574delA	c.(574-576)aaafs	p.K194fs	CCDC15_ENST00000529051.1_Frame_Shift_Del_p.K194fs	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	194						centrosome (GO:0005813)		p.K194fs*29(5)|p.S196fs*6(2)		central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		AACCGTGATTAAAAAAAAGGG	0.373																																					p.K192fs												.	.	7	Deletion - Frameshift(5)|Insertion - Frameshift(2)	large_intestine(7)	c.574delA	11						.																																			124350259	SO:0001589	frameshift_variant	80071	exon5			BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.574delA	11.37:g.124845049delA	ENSP00000341684:p.Lys194fs		124350259	NM_025004	Q9H8U7	Frame_Shift_Del	DEL	ENST00000344762.5	37	CCDS44756.1																																																																																				0.373	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004	
KIRREL3	84623	broad.mit.edu	37	11	126316727	126316727	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr11:126316727T>C	ENST00000525144.2	-	9	1301	c.1052A>G	c.(1051-1053)gAt>gGt	p.D351G	KIRREL3_ENST00000529097.2_Missense_Mutation_p.D351G|KIRREL3_ENST00000525704.2_Missense_Mutation_p.D351G	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	351	Ig-like C2-type 4.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D310G(1)		central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		GAAGATGGCATCAGAGCCCAG	0.622																																					p.D351G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1052G	11						.						42.0	45.0	44.0					11																	126316727		2070	4187	6257	125821937	SO:0001583	missense	84623	exon9			AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.1052A>G	11.37:g.126316727T>C	ENSP00000435466:p.Asp351Gly		125821937	NM_032531	Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Missense_Mutation	SNP	ENST00000525144.2	37	CCDS53723.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.512691	0.85389	.	.	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000525704	T;T;T	0.29142	1.58;1.58;1.58	4.55	4.55	0.56014	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.51924	0.1703	M	0.64260	1.97	0.80722	D	1	D;D;D	0.89917	0.998;0.997;1.0	D;D;D	0.83275	0.995;0.996;0.996	T	0.55685	-0.8102	10	0.72032	D	0.01	.	13.5576	0.61768	0.0:0.0:0.0:1.0	.	351;351;351	Q8IZU9-2;E9PRX9;Q8IZU9	.;.;KIRR3_HUMAN	G	351	ENSP00000435466:D351G;ENSP00000434081:D351G;ENSP00000435094:D351G	ENSP00000435466:D351G	D	-	2	0	KIRREL3	125821937	1.000000	0.71417	0.945000	0.38365	0.937000	0.57800	8.005000	0.88553	1.666000	0.50821	0.247000	0.18012	GAT		0.622	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531	
PPM1H	57460	broad.mit.edu	37	12	63195673	63195674	+	Frame_Shift_Ins	INS	-	-	G	rs375621486		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	-	-	-	G	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:63195673_63195674insG	ENST00000228705.6	-	3	978_979	c.678_679insC	c.(676-681)cccacafs	p.T227fs		NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	227	PP2C-like.						phosphoprotein phosphatase activity (GO:0004721)	p.T227fs*12(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		AAGAAGCGTGTGGGGGGCGTGC	0.644																																					p.T227fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.679_680insC	12						.																																			61481941	SO:0001589	frameshift_variant	57460	exon3			AB032983	CCDS44934.1	12q14.1	2012-04-17	2010-03-05	2004-03-26	ENSG00000111110	ENSG00000111110	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	18583	protein-coding gene	gene with protein product	"""neurite extension-related protein phosphatase related to PP2C"""		"""ras homolog gene family, member C like 1"", ""protein phosphatase 1H (PP2C domain containing)"""	ARHCL1			Standard	NM_020700		Approved	KIAA1157, FLJ13253, NERPP-2C	uc001srk.3	Q9ULR3	OTTHUMG00000169990	ENST00000228705.6:c.679dupC	12.37:g.63195679_63195679dupG	ENSP00000228705:p.Thr227fs		61481940	NM_020700	B1Q2A9|B2RXG4|Q6PI86	Frame_Shift_Ins	INS	ENST00000228705.6	37	CCDS44934.1																																																																																				0.644	PPM1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406760.2	NM_020700	
MYBPC1	4604	broad.mit.edu	37	12	102036290	102036290	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:102036290G>C	ENST00000550270.1	+	9	684	c.684G>C	c.(682-684)caG>caC	p.Q228H	MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000361466.2_Missense_Mutation_p.Q253H|MYBPC1_ENST00000547405.1_Missense_Mutation_p.Q202H|MYBPC1_ENST00000547509.1_Missense_Mutation_p.Q214H|MYBPC1_ENST00000452455.2_Missense_Mutation_p.Q228H|MYBPC1_ENST00000549145.1_Missense_Mutation_p.Q241H|MYBPC1_ENST00000441232.1_Missense_Mutation_p.Q228H|MYBPC1_ENST00000545503.2_Missense_Mutation_p.Q228H|MYBPC1_ENST00000541119.1_Missense_Mutation_p.Q216H|MYBPC1_ENST00000361685.2_Missense_Mutation_p.Q253H|MYBPC1_ENST00000536007.1_Missense_Mutation_p.Q209H|MYBPC1_ENST00000551300.1_Missense_Mutation_p.Q129H|MYBPC1_ENST00000553190.1_Missense_Mutation_p.Q228H|MYBPC1_ENST00000360610.2_Missense_Mutation_p.Q228H|MYBPC1_ENST00000392934.3_Missense_Mutation_p.Q215H			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	228					cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.Q253H(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TCGCCTTCCAGTATGGAATCA	0.607																																					p.Q253H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G759C	12						.						104.0	83.0	90.0					12																	102036290		2203	4300	6503	100560421	SO:0001583	missense	4604	exon11				CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.684G>C	12.37:g.102036290G>C	ENSP00000449702:p.Gln228His		100560421	NM_002465	B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.256935	0.80246	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.61392	0.15;0.13;0.12;0.13;0.15;0.11;0.15;0.13;0.14;0.12;0.25;0.13;0.14;0.18;0.13	5.53	3.68	0.42216	.	0.000000	0.44688	D	0.000438	T	0.74520	0.3727	M	0.82517	2.595	0.37984	D	0.933684	D;D;B;D;D;P;D;D;P;D;D	0.64830	0.978;0.984;0.225;0.99;0.972;0.939;0.984;0.99;0.548;0.994;0.994	P;P;B;P;P;P;P;P;B;P;D	0.68192	0.862;0.804;0.15;0.804;0.845;0.781;0.904;0.845;0.381;0.904;0.956	T	0.79678	-0.1703	9	.	.	.	.	11.7835	0.52028	0.1434:0.0:0.8566:0.0	.	209;216;228;228;215;202;228;228;253;253;241	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2;F8VZY0	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.;.	H	202;228;228;228;215;214;253;241;228;253;228;209;216;253;129;228	ENSP00000448175:Q202H;ENSP00000400908:Q228H;ENSP00000388989:Q228H;ENSP00000353822:Q228H;ENSP00000376665:Q215H;ENSP00000447362:Q214H;ENSP00000354845:Q253H;ENSP00000447660:Q241H;ENSP00000447900:Q228H;ENSP00000440034:Q228H;ENSP00000446128:Q209H;ENSP00000442847:Q216H;ENSP00000354849:Q253H;ENSP00000447116:Q129H;ENSP00000449702:Q228H	.	Q	+	3	2	MYBPC1	100560421	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.267000	0.33050	1.301000	0.44836	0.563000	0.77884	CAG		0.607	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1		
GNPTAB	79158	broad.mit.edu	37	12	102158709	102158709	+	Silent	SNP	C	C	T	rs112000802		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:102158709C>T	ENST00000299314.7	-	13	2248	c.1986G>A	c.(1984-1986)gcG>gcA	p.A662A	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	662			A -> G. {ECO:0000269|PubMed:16094673}.		carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)	p.A662A(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						AAAGGATTTCCGCCTCTGGAA	0.433													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18576	0.0		0.0	False		,,,				2504	0.0				p.A662A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1986A	12						.	C		12,4394	17.9+/-39.9	0,12,2191	103.0	101.0	102.0		1986	-11.9	0.0	12	dbSNP_132	102	0,8600		0,0,4300	no	coding-synonymous	GNPTAB	NM_024312.4		0,12,6491	TT,TC,CC		0.0,0.2724,0.0923		662/1257	102158709	12,12994	2203	4300	6503	100682840	SO:0001819	synonymous_variant	79158	exon13			AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.1986G>A	12.37:g.102158709C>T			100682840	NM_024312	A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Silent	SNP	ENST00000299314.7	37	CCDS9088.1																																																																																				0.433	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1		
DRAM1	55332	broad.mit.edu	37	12	102302023	102302023	+	Silent	SNP	C	C	T	rs61748065		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:102302023C>T	ENST00000258534.8	+	4	841	c.402C>T	c.(400-402)gtC>gtT	p.V134V	DRAM1_ENST00000544152.1_Intron	NM_018370.2	NP_060840.2	Q8N682	DRAM1_HUMAN	DNA-damage regulated autophagy modulator 1	134					apoptotic process (GO:0006915)|autophagy (GO:0006914)|regulation of autophagy (GO:0010506)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.V28V(2)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12						TCTGTGGTGTCGTGTACACGC	0.498																																					p.V134V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C402T	12						.						196.0	199.0	198.0					12																	102302023		2098	4237	6335	100826154	SO:0001819	synonymous_variant	55332	exon4			BC018435, DA721965	CCDS41823.1	12q23.2	2014-02-12	2009-06-12		ENSG00000136048	ENSG00000136048			25645	protein-coding gene	gene with protein product	"""damage-regulated autophagy modulator"""	610776				16839881	Standard	NM_018370		Approved	FLJ11259, DRAM	uc001tix.3	Q8N682		ENST00000258534.8:c.402C>T	12.37:g.102302023C>T			100826154	NM_018370	B7Z4T0|Q7L3E3|Q9NUN1	Silent	SNP	ENST00000258534.8	37	CCDS41823.1																																																																																				0.498	DRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409195.1	NM_018370	
STAB2	55576	broad.mit.edu	37	12	104105288	104105288	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:104105288G>A	ENST00000388887.2	+	40	4532	c.4328G>A	c.(4327-4329)aGc>aAc	p.S1443N		NM_017564.9	NP_060034.9			stabilin 2									p.S1443N(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGCCATACCAGCGCCAAGTAG	0.473																																					p.S1443N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4328A	12						.						110.0	103.0	105.0					12																	104105288		2203	4300	6503	102629418	SO:0001583	missense	55576	exon40			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.4328G>A	12.37:g.104105288G>A	ENSP00000373539:p.Ser1443Asn		102629418	NM_017564		Missense_Mutation	SNP	ENST00000388887.2	37	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	9.356	1.066842	0.20067	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	T	0.02763	4.17	5.87	5.87	0.94306	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.044715	0.85682	D	0.000000	T	0.03564	0.0102	L	0.33792	1.035	0.50313	D	0.999866	B	0.22541	0.071	B	0.17722	0.019	T	0.52990	-0.8501	10	0.10111	T	0.7	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	1443	Q8WWQ8	STAB2_HUMAN	N	1443;130	ENSP00000373539:S1443N	ENSP00000258495:S130N	S	+	2	0	STAB2	102629418	1.000000	0.71417	0.979000	0.43373	0.106000	0.19336	7.157000	0.77461	2.941000	0.99782	0.655000	0.94253	AGC		0.473	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1		
KLRC3	3823	broad.mit.edu	37	12	10568344	10568344	+	Missense_Mutation	SNP	G	G	A	rs569300623		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:10568344G>A	ENST00000396439.2	-	6	681	c.637C>T	c.(637-639)Cgt>Tgt	p.R213C	KLRC3_ENST00000381904.2_Missense_Mutation_p.R213C|NKG2-E_ENST00000539033.1_Missense_Mutation_p.R213C|KLRC3_ENST00000381903.2_Missense_Mutation_p.R213C	NM_002261.2	NP_002252.2	Q07444	NKG2E_HUMAN	killer cell lectin-like receptor subfamily C, member 3	213	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular defense response (GO:0006968)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.R213C(1)|p.R213S(1)		large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						ATAAGTCCACGTACATGTAGC	0.363																																					p.R213C												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C637T	12						.						125.0	106.0	112.0					12																	10568344		2203	4300	6503	10459611	SO:0001583	missense	3823	exon6			L14542	CCDS31744.1, CCDS41755.1	12p13	2008-08-05			ENSG00000205810	ENSG00000205810		"""Killer cell lectin-like receptors"""	6376	protein-coding gene	gene with protein product		602892				9598306	Standard	NM_002261		Approved	NKG2-E	uc001qyi.1	Q07444	OTTHUMG00000167149	ENST00000396439.2:c.637C>T	12.37:g.10568344G>A	ENSP00000379716:p.Arg213Cys		10459611	NM_007333	Q8WXA4|Q96RL0|Q9UP04	Missense_Mutation	SNP	ENST00000396439.2	37	CCDS41755.1	.	.	.	.	.	.	.	.	.	.	G	0.144	-1.098407	0.01843	.	.	ENSG00000255641;ENSG00000205810;ENSG00000205810;ENSG00000205810	ENST00000539033;ENST00000396439;ENST00000381904;ENST00000381903	T;T;T;T	0.07216	3.21;3.21;3.21;3.21	2.48	-4.97	0.03029	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	3.389020	0.00953	N	0.002996	T	0.15262	0.0368	L	0.61218	1.895	0.09310	N	1	D;D;D	0.69078	0.976;0.98;0.997	P;P;P	0.53185	0.707;0.663;0.72	T	0.59456	-0.7451	10	0.38643	T	0.18	.	2.0257	0.03519	0.1176:0.3562:0.2454:0.2808	.	213;213;213	Q07444-2;F5H6K3;Q07444	.;.;NKG2E_HUMAN	C	213	ENSP00000437563:R213C;ENSP00000379716:R213C;ENSP00000371329:R213C;ENSP00000371328:R213C	ENSP00000371328:R213C	R	-	1	0	KLRC3;RP11-277P12.6	10459611	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.807000	0.00183	-6.924000	0.00002	-3.083000	0.00065	CGT		0.363	KLRC3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393471.1	NM_002261	
HCFC2	29915	broad.mit.edu	37	12	104492158	104492158	+	Missense_Mutation	SNP	C	C	T	rs148983779		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:104492158C>T	ENST00000229330.4	+	13	1882	c.1778C>T	c.(1777-1779)gCg>gTg	p.A593V	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	593	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)	p.A593V(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						ACAGTGAAAGCGGGAGAACGA	0.353													C|||	1	0.000199681	0.0	0.0	5008	,	,		16688	0.0		0.001	False		,,,				2504	0.0				p.A593V	Esophageal Squamous(184;1814 2036 4771 6974 15702)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1778T	12						.	C	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	44.0	48.0	46.0		1778	1.6	1.0	12	dbSNP_134	46	0,8600		0,0,4300	no	missense	HCFC2	NM_013320.2	64	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	593/793	104492158	2,13004	2203	4300	6503	103016288	SO:0001583	missense	29915	exon13			AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.1778C>T	12.37:g.104492158C>T	ENSP00000229330:p.Ala593Val		103016288	NM_013320	B2R8Q5|C0H5X3	Missense_Mutation	SNP	ENST00000229330.4	37	CCDS9097.1	.	.	.	.	.	.	.	.	.	.	C	10.12	1.264292	0.23136	4.54E-4	0.0	ENSG00000111727	ENST00000229330	T	0.01767	4.65	5.68	1.6	0.23607	Fibronectin, type III (3);	0.898301	0.09718	N	0.764789	T	0.01387	0.0045	N	0.22421	0.69	0.09310	N	1	B	0.22003	0.063	B	0.14023	0.01	T	0.48281	-0.9049	10	0.34782	T	0.22	-0.7762	3.1337	0.06431	0.2077:0.4531:0.2086:0.1306	.	593	Q9Y5Z7	HCFC2_HUMAN	V	593	ENSP00000229330:A593V	ENSP00000229330:A593V	A	+	2	0	HCFC2	103016288	0.919000	0.31177	0.986000	0.45419	0.793000	0.44817	0.101000	0.15251	0.752000	0.32923	-0.156000	0.13503	GCG		0.353	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	NM_013320	
CCDC63	160762	broad.mit.edu	37	12	111345204	111345204	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:111345204G>A	ENST00000308208.5	+	12	1858	c.1616G>A	c.(1615-1617)cGg>cAg	p.R539Q	CCDC63_ENST00000552694.1_Missense_Mutation_p.R460Q|CCDC63_ENST00000545036.1_Missense_Mutation_p.R499Q	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	539								p.R539Q(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						AAGGAGAATCGGAGTAAGGAA	0.532																																					p.R539Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1616A	12						.						86.0	69.0	75.0					12																	111345204		2203	4300	6503	109829587	SO:0001583	missense	160762	exon12			AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"""outer row dynein assembly 5 homolog (Chlamydomonas)"""						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.1616G>A	12.37:g.111345204G>A	ENSP00000312399:p.Arg539Gln		109829587	NM_152591	B4DY03|Q0P603|Q6P2E1	Missense_Mutation	SNP	ENST00000308208.5	37	CCDS9151.1	.	.	.	.	.	.	.	.	.	.	G	9.634	1.137294	0.21123	.	.	ENSG00000173093	ENST00000545036;ENST00000308208;ENST00000552694	T;T;T	0.30714	1.53;1.52;1.53	3.34	2.44	0.29823	.	0.782486	0.11145	N	0.594742	T	0.10121	0.0248	N	0.08118	0	0.09310	N	1	P	0.42961	0.795	B	0.24848	0.056	T	0.08066	-1.0740	10	0.16896	T	0.51	.	6.8317	0.23913	0.1289:0.0:0.8711:0.0	.	539	Q8NA47	CCD63_HUMAN	Q	499;539;460	ENSP00000445881:R499Q;ENSP00000312399:R539Q;ENSP00000450217:R460Q	ENSP00000312399:R539Q	R	+	2	0	CCDC63	109829587	0.019000	0.18553	0.004000	0.12327	0.009000	0.06853	0.862000	0.27899	0.985000	0.38656	0.543000	0.68304	CGG		0.532	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404673.2	NM_152591	
MAPKAPK5	8550	broad.mit.edu	37	12	112280560	112280560	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:112280560A>G	ENST00000551404.2	+	1	131	c.23A>G	c.(22-24)gAc>gGc	p.D8G	MAPKAPK5_ENST00000550735.2_Missense_Mutation_p.D8G|MAPKAPK5_ENST00000546394.1_3'UTR|MAPKAPK5_ENST00000547305.1_Missense_Mutation_p.D8G|MAPKAPK5-AS1_ENST00000428207.1_lincRNA			Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	8					activation of MAPK activity (GO:0000187)|MAPK cascade (GO:0000165)|negative regulation of TOR signaling (GO:0032007)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)|stress-induced premature senescence (GO:0090400)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)	p.D8G(1)		endometrium(1)|lung(11)|ovary(1)	13						AGCGACATGGACAAAGCCATC	0.637																																					p.D8G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A23G	12						.						35.0	44.0	41.0					12																	112280560		1924	4119	6043	110764943	SO:0001583	missense	8550	exon1			AF032437	CCDS44975.1, CCDS44976.1	12q24.13	2012-05-30			ENSG00000089022	ENSG00000089022			6889	protein-coding gene	gene with protein product		606723				9628874	Standard	NM_003668		Approved	PRAK	uc001tta.4	Q8IW41	OTTHUMG00000169605	ENST00000551404.2:c.23A>G	12.37:g.112280560A>G	ENSP00000449381:p.Asp8Gly		110764943	NM_139078	B3KVA5|O60491|Q86X46|Q9BVX9|Q9UG86	Missense_Mutation	SNP	ENST00000551404.2	37	CCDS44975.1	.	.	.	.	.	.	.	.	.	.	a	15.31	2.795567	0.50208	.	.	ENSG00000089022	ENST00000550735;ENST00000202788;ENST00000428907;ENST00000546394;ENST00000551404	T;T	0.56275	0.47;0.47	3.2	3.2	0.36748	Protein kinase-like domain (1);	0.262166	0.26887	U	0.021996	T	0.35682	0.0940	N	0.13098	0.295	0.40596	D	0.981535	B;P	0.40282	0.18;0.711	B;B	0.42827	0.025;0.399	T	0.20306	-1.0279	10	0.41790	T	0.15	.	8.1675	0.31235	1.0:0.0:0.0:0.0	.	8;8	Q8IW41;Q8IW41-2	MAPK5_HUMAN;.	G	8	ENSP00000449667:D8G;ENSP00000449381:D8G	ENSP00000202788:D8G	D	+	2	0	MAPKAPK5	110764943	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.270000	0.43355	1.690000	0.51089	0.459000	0.35465	GAC		0.637	MAPKAPK5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405019.2	NM_139078	
HECTD4	283450	broad.mit.edu	37	12	112620991	112620991	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:112620991T>C	ENST00000430131.2	-	61	10738	c.9593A>G	c.(9592-9594)gAt>gGt	p.D3198G	HECTD4_ENST00000550722.1_Missense_Mutation_p.D3474G|HECTD4_ENST00000377560.5_Missense_Mutation_p.D3448G			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3198					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.D3448G(1)									ATCTTCACCATCCAAACTTGA	0.388																																					p.D3448G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A10343G	12						.						181.0	177.0	178.0					12																	112620991		1837	4099	5936	111105374	SO:0001583	missense	283450	exon61			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.9593A>G	12.37:g.112620991T>C	ENSP00000404379:p.Asp3198Gly		111105374	NM_001109662	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37		.	.	.	.	.	.	.	.	.	.	T	21.4	4.151032	0.78001	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.54479	0.58;0.58;0.57	5.7	5.7	0.88788	.	.	.	.	.	T	0.38108	0.1028	N	0.14661	0.345	0.58432	D	0.999998	P	0.40970	0.734	B	0.37198	0.243	T	0.45366	-0.9266	9	0.87932	D	0	.	15.9662	0.79974	0.0:0.0:0.0:1.0	.	3198	Q9Y4D8	K0614_HUMAN	G	3448;3198;3474	ENSP00000366783:D3448G;ENSP00000404379:D3198G;ENSP00000449784:D3474G	ENSP00000366783:D3448G	D	-	2	0	C12orf51	111105374	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.600000	0.67599	2.170000	0.68504	0.533000	0.62120	GAT		0.388	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813	
OAS1	4938	broad.mit.edu	37	12	113355447	113355447	+	Missense_Mutation	SNP	T	T	C	rs145483625	byFrequency	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:113355447T>C	ENST00000202917.5	+	5	1243	c.980T>C	c.(979-981)cTg>cCg	p.L327P	OAS1_ENST00000452357.2_Missense_Mutation_p.L327P|OAS1_ENST00000445409.2_Missense_Mutation_p.L327P|OAS1_ENST00000551241.1_Missense_Mutation_p.L327P|RP1-71H24.1_ENST00000552784.1_RNA	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	327					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	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.L327P(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						GAGGCCTGGCTGAATTACCCA	0.592													T|||	2	0.000399361	0.0015	0.0	5008	,	,		17462	0.0		0.0	False		,,,				2504	0.0				p.L327P												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T980C	12						.	T	PRO/LEU,PRO/LEU,PRO/LEU	9,4397	15.5+/-35.6	0,9,2194	134.0	141.0	139.0		980,980,980	3.9	0.9	12	dbSNP_134	139	0,8600		0,0,4300	yes	missense,missense,missense	OAS1	NM_001032409.1,NM_002534.2,NM_016816.2	98,98,98	0,9,6494	CC,CT,TT		0.0,0.2043,0.0692	probably-damaging,probably-damaging,probably-damaging	327/415,327/365,327/401	113355447	9,12997	2203	4300	6503	111839830	SO:0001583	missense	4938	exon5			X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"""2',5'-oligoadenylate synthetase 1 (40-46 kD)"""	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.980T>C	12.37:g.113355447T>C	ENSP00000202917:p.Leu327Pro		111839830	NM_001032409	A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Missense_Mutation	SNP	ENST00000202917.5	37	CCDS41838.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	T	16.23	3.065324	0.55432	0.002043	0.0	ENSG00000089127	ENST00000202917;ENST00000445409;ENST00000452357;ENST00000551241;ENST00000377508;ENST00000553152	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	5.05	3.87	0.44632	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	3.454680	0.00691	N	0.000721	T	0.77837	0.4190	M	0.94063	3.49	0.50632	D	0.999889	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.87578	0.976;0.998;0.997;0.993	T	0.65981	-0.6036	10	0.87932	D	0	-8.9164	7.6704	0.28455	0.0:0.097:0.0:0.903	.	327;327;327;327	F8VXY3;P00973;P00973-3;P00973-2	.;OAS1_HUMAN;.;.	P	327;327;327;327;327;73	ENSP00000202917:L327P;ENSP00000388001:L327P;ENSP00000415721:L327P;ENSP00000448790:L327P;ENSP00000449053:L73P	ENSP00000202917:L327P	L	+	2	0	OAS1	111839830	0.890000	0.30428	0.910000	0.35882	0.024000	0.10985	2.032000	0.41127	2.136000	0.66102	0.533000	0.62120	CTG		0.592	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405896.2		
MED13L	23389	broad.mit.edu	37	12	116443773	116443773	+	Silent	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:116443773G>A	ENST00000281928.3	-	13	2576	c.2370C>T	c.(2368-2370)ggC>ggT	p.G790G		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	790						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.G790G(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AGCCAGCTCTGCCAGCAGCAT	0.493																																					p.G790G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2370T	12						.						89.0	90.0	90.0					12																	116443773		2203	4300	6503	114928156	SO:0001819	synonymous_variant	23389	exon13			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.2370C>T	12.37:g.116443773G>A			114928156	NM_015335	A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Silent	SNP	ENST00000281928.3	37	CCDS9177.1																																																																																				0.493	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3		
ETV6	2120	broad.mit.edu	37	12	12037474	12037474	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:12037474C>T	ENST00000396373.4	+	6	1379	c.1105C>T	c.(1105-1107)Cgg>Tgg	p.R369W		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	369					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R369W(2)	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CAAAATATTCCGGATAGTGGA	0.458			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""																																p.R369W			Dom	yes		12	12p13	2120	ets variant gene 6 (TEL oncogene)		"""L, E, M"""	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1105T	12						.						120.0	111.0	114.0					12																	12037474		2203	4300	6503	11928741	SO:0001583	missense	2120	exon6			BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"""TEL oncogene"""	600618	"""ets variant gene 6 (TEL oncogene)"""			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.1105C>T	12.37:g.12037474C>T	ENSP00000379658:p.Arg369Trp		11928741	NM_001987	A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Missense_Mutation	SNP	ENST00000396373.4	37	CCDS8643.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.709353	0.89018	.	.	ENSG00000139083	ENST00000396373	T	0.16897	2.31	5.63	5.63	0.86233	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.48696	0.1514	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.52155	-0.8613	10	0.87932	D	0	.	19.2738	0.94021	0.0:1.0:0.0:0.0	.	369	P41212	ETV6_HUMAN	W	369	ENSP00000379658:R369W	ENSP00000379658:R369W	R	+	1	2	ETV6	11928741	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.950000	0.70265	2.636000	0.89361	0.655000	0.94253	CGG		0.458	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400130.2	NM_001987	
CIT	11113	broad.mit.edu	37	12	120288078	120288078	+	Splice_Site	SNP	A	A	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:120288078A>C	ENST00000261833.7	-	5	468	c.416T>G	c.(415-417)gTt>gGt	p.V139G	CIT_ENST00000392521.2_Splice_Site_p.V139G	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	139	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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.V140G(1)|p.V139G(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)		AAAAAATGAAACCTAGGGAAA	0.388																																					p.V139G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T416G	12						.						119.0	130.0	126.0					12																	120288078		2203	4300	6503	118772461	SO:0001630	splice_region_variant	11113	exon5			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.415-1T>G	12.37:g.120288078A>C			118772461	NM_007174	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.195005	0.78902	.	.	ENSG00000122966	ENST00000392521;ENST00000261833;ENST00000536325	T;T;T	0.65178	-0.14;-0.14;-0.14	5.11	5.11	0.69529	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000005	T	0.68622	0.3021	M	0.66297	2.02	0.80722	D	1	B;P	0.41041	0.122;0.736	B;P	0.46885	0.051;0.53	T	0.73177	-0.4065	10	0.72032	D	0.01	.	14.9202	0.70832	1.0:0.0:0.0:0.0	.	139;139	Q2M5E1;O14578	.;CTRO_HUMAN	G	139;139;56	ENSP00000376306:V139G;ENSP00000261833:V139G;ENSP00000443199:V56G	ENSP00000261833:V139G	V	-	2	0	CIT	118772461	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.004000	0.93583	1.934000	0.56057	0.533000	0.62120	GTT		0.388	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174	Missense_Mutation
VPS33A	65082	broad.mit.edu	37	12	122726968	122726968	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:122726968T>C	ENST00000267199.4	-	8	1169	c.1057A>G	c.(1057-1059)Aac>Gac	p.N353D	RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.N314D	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	353					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of developmental pigmentation (GO:0048070)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)		p.N353D(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		GAGGTATGGTTTGCAAGCGAG	0.448																																					p.N353D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1057G	12						.						148.0	128.0	135.0					12																	122726968		2203	4300	6503	121292921	SO:0001583	missense	65082	exon8			AK026048	CCDS9231.1	12q24.31	2008-06-23	2006-04-04		ENSG00000139719	ENSG00000139719			18179	protein-coding gene	gene with protein product		610034	"""vacuolar protein sorting 33A (yeast)"""			11250079	Standard	NM_022916		Approved		uc001ucd.3	Q96AX1	OTTHUMG00000168920	ENST00000267199.4:c.1057A>G	12.37:g.122726968T>C	ENSP00000267199:p.Asn353Asp		121292921	NM_022916	Q547V4|Q9H5Q0	Missense_Mutation	SNP	ENST00000267199.4	37	CCDS9231.1	.	.	.	.	.	.	.	.	.	.	T	14.89	2.670604	0.47781	.	.	ENSG00000139719	ENST00000267199	T	0.76578	-1.03	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.71796	0.3382	L	0.48642	1.525	0.80722	D	1	B	0.27166	0.17	B	0.27380	0.079	T	0.67245	-0.5719	10	0.12430	T	0.62	-40.841	16.8061	0.85666	0.0:0.0:0.0:1.0	.	353	Q96AX1	VP33A_HUMAN	D	353	ENSP00000267199:N353D	ENSP00000446319:N314D	N	-	1	0	VPS33A	121292921	1.000000	0.71417	0.964000	0.40570	0.830000	0.47004	8.008000	0.88588	2.367000	0.80283	0.528000	0.53228	AAC		0.448	VPS33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401607.2		
PITPNM2	57605	broad.mit.edu	37	12	123474410	123474410	+	Silent	SNP	G	G	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:123474410G>C	ENST00000542749.1	-	16	2718	c.2655C>G	c.(2653-2655)ggC>ggG	p.G885G	PITPNM2_ENST00000280562.5_Intron|PITPNM2_ENST00000392428.1_Silent_p.G606G|PITPNM2_ENST00000320201.4_Silent_p.G885G			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	885	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)	p.G885G(1)		NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GAGGGTGGGGGCCAGGGGTGG	0.692																																					p.G885G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2655G	12						.						6.0	6.0	6.0					12																	123474410		1870	3598	5468	122040363	SO:0001819	synonymous_variant	57605	exon17			AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.2655C>G	12.37:g.123474410G>C			122040363	NM_020845	Q9P271	Silent	SNP	ENST00000542749.1	37	CCDS9242.1																																																																																				0.692	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845	
EIF2B1	1967	broad.mit.edu	37	12	124111634	124111634	+	Nonsense_Mutation	SNP	G	G	A	rs370678173		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:124111634G>A	ENST00000424014.2	-	5	647	c.439C>T	c.(439-441)Cga>Tga	p.R147*	EIF2B1_ENST00000537073.1_Nonsense_Mutation_p.R147*|EIF2B1_ENST00000539951.1_Nonsense_Mutation_p.R134*	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	147					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme regulator activity (GO:0030234)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)	p.R147*(1)		breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		ACACTAAATCGCTTCTTGGCC	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		20836	0.0		0.0	False		,,,				2504	0.001				p.R147X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C439T	12						.	G	stop/ARG	0,4406		0,0,2203	147.0	121.0	130.0		439	4.8	1.0	12		130	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	EIF2B1	NM_001414.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		147/306	124111634	1,13005	2203	4300	6503	122677587	SO:0001587	stop_gained	1967	exon5			X95648	CCDS31924.1	12q24.3	1998-10-16	2002-08-29		ENSG00000111361	ENSG00000111361			3257	protein-coding gene	gene with protein product		606686	"""eukaryotic translation initiation factor 2B, subunit 1 (alpha, 26kD)"""	EIF2B			Standard	NM_001414		Approved	EIF-2Balpha, EIF-2B, EIF2BA	uc001ufm.3	Q14232	OTTHUMG00000168696	ENST00000424014.2:c.439C>T	12.37:g.124111634G>A	ENSP00000416250:p.Arg147*		122677587	NM_001414	A6NLY9|B4DGX0|Q3SXP4	Nonsense_Mutation	SNP	ENST00000424014.2	37	CCDS31924.1	.	.	.	.	.	.	.	.	.	.	G	37	6.603587	0.97697	0.0	1.16E-4	ENSG00000111361	ENST00000424014;ENST00000228958;ENST00000539951;ENST00000537073	.	.	.	5.72	4.82	0.62117	.	0.094005	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.0031	14.4735	0.67531	0.0:0.0:0.8529:0.1471	.	.	.	.	X	147;147;134;147	.	ENSP00000228958:R147X	R	-	1	2	EIF2B1	122677587	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.162000	0.71874	1.393000	0.46605	-0.182000	0.12963	CGA		0.502	EIF2B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400628.1	NM_001414	
TMEM132B	114795	broad.mit.edu	37	12	125834223	125834223	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:125834223T>C	ENST00000299308.3	+	2	286	c.278T>C	c.(277-279)gTg>gCg	p.V93A	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	93						integral component of membrane (GO:0016021)		p.V93A(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)		CCATTTTCAGTGGAGAAGATA	0.498																																					p.V93A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T278C	12						.						108.0	107.0	107.0					12																	125834223		1876	4102	5978	124400176	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.278T>C	12.37:g.125834223T>C	ENSP00000299308:p.Val93Ala		124400176	NM_052907	A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	T	7.644	0.681557	0.14907	.	.	ENSG00000139364	ENST00000299308	T	0.12361	2.69	5.41	-3.58	0.04597	.	.	.	.	.	T	0.06416	0.0165	N	0.04787	-0.16	0.19775	N	0.99996	B	0.06786	0.001	B	0.06405	0.002	T	0.39210	-0.9625	9	0.25751	T	0.34	.	13.2089	0.59813	0.0:0.2197:0.0:0.7803	.	93	Q14DG7	T132B_HUMAN	A	93	ENSP00000299308:V93A	ENSP00000299308:V93A	V	+	2	0	TMEM132B	124400176	0.632000	0.27172	0.000000	0.03702	0.831000	0.47069	1.133000	0.31430	-0.783000	0.04534	0.482000	0.46254	GTG		0.498	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907	
WNK1	65125	broad.mit.edu	37	12	966331	966331	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:966331T>C	ENST00000315939.6	+	5	1959	c.1316T>C	c.(1315-1317)gTg>gCg	p.V439A	WNK1_ENST00000530271.2_Missense_Mutation_p.V439A|WNK1_ENST00000535572.1_Missense_Mutation_p.V439A|WNK1_ENST00000537687.1_Missense_Mutation_p.V439A|WNK1_ENST00000540360.1_3'UTR|WNK1_ENST00000340908.4_Missense_Mutation_p.V32A	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	439	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.V439A(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TTTCAGGGGGTGAAGCCAGCC	0.348																																					p.V439A	Colon(19;451 567 6672 12618 28860)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1316C	12						.						80.0	78.0	79.0					12																	966331		2203	4300	6503	836592	SO:0001583	missense	65125	exon5			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.1316T>C	12.37:g.966331T>C	ENSP00000313059:p.Val439Ala		836592	NM_001184985	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.718950	0.89205	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000530271;ENST00000340908	T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;0.19	6.08	6.08	0.98989	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000020	T	0.69233	0.3088	L	0.27053	0.805	0.50813	D	0.999899	P;P	0.51933	0.937;0.949	P;D	0.65684	0.895;0.937	T	0.72782	-0.4189	10	0.87932	D	0	-11.8235	16.6512	0.85203	0.0:0.0:0.0:1.0	.	439;439	F5GWT4;Q9H4A3	.;WNK1_HUMAN	A	439;439;439;439;32	ENSP00000441972:V439A;ENSP00000313059:V439A;ENSP00000444465:V439A;ENSP00000433548:V439A;ENSP00000341292:V32A	ENSP00000313059:V439A	V	+	2	0	WNK1	836592	1.000000	0.71417	0.677000	0.29947	0.981000	0.71138	7.895000	0.87343	2.333000	0.79357	0.482000	0.46254	GTG		0.348	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979	
RAD52	5893	broad.mit.edu	37	12	1023218	1023218	+	Missense_Mutation	SNP	G	G	A	rs4987207	byFrequency	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:1023218G>A	ENST00000358495.3	-	11	1175	c.1037C>T	c.(1036-1038)tCg>tTg	p.S346L	RAD52_ENST00000430095.2_Missense_Mutation_p.S346L|RAD52_ENST00000539046.1_Missense_Mutation_p.S269L|RAD52_ENST00000535376.1_5'UTR	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	346					DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)	p.S346L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			TGCTCTAGACGAGGGCTTGAC	0.532								Homologous recombination																													p.S346L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1037T	12	GRCh37	CM025484	RAD52	M	rs4987207	.						128.0	119.0	122.0					12																	1023218		1969	4140	6109	893479	SO:0001583	missense	5893	exon11				CCDS8507.2	12p13-p12.2	2008-08-05	2001-11-28		ENSG00000002016	ENSG00000002016			9824	protein-coding gene	gene with protein product		600392	"""RAD52 (S. cerevisiae) homolog"""			7774919, 18313388	Standard	XM_005253721		Approved		uc001qis.1	P43351	OTTHUMG00000090361	ENST00000358495.3:c.1037C>T	12.37:g.1023218G>A	ENSP00000351284:p.Ser346Leu		893479	NM_134424	Q13205|Q9Y5T7|Q9Y5T8|Q9Y5T9	Missense_Mutation	SNP	ENST00000358495.3	37	CCDS8507.2	.	.	.	.	.	.	.	.	.	.	G	9.075	0.997892	0.19043	.	.	ENSG00000002016	ENST00000358495;ENST00000430095;ENST00000539046	T;T;T	0.28454	2.02;2.02;1.61	5.11	-2.06	0.07298	.	1.357460	0.04672	N	0.410867	T	0.10208	0.0250	N	0.01188	-0.97	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23261	-1.0193	10	0.19147	T	0.46	-4.6629	6.2839	0.21023	0.4292:0.1498:0.421:0.0	.	346	P43351	RAD52_HUMAN	L	346;346;269	ENSP00000351284:S346L;ENSP00000387901:S346L;ENSP00000445245:S269L	ENSP00000351284:S346L	S	-	2	0	RAD52	893479	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	0.112000	0.15479	-0.346000	0.08312	-0.459000	0.05422	TCG		0.532	RAD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206733.2	NM_134424	
CD27	939	broad.mit.edu	37	12	6559461	6559461	+	Missense_Mutation	SNP	C	C	T	rs150578547	byFrequency	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:6559461C>T	ENST00000266557.3	+	3	620	c.391C>T	c.(391-393)Cgg>Tgg	p.R131W	TAPBPL_ENST00000544021.1_5'Flank|CD27_ENST00000541233.1_3'UTR|TAPBPL_ENST00000266556.7_5'Flank|CD27-AS1_ENST00000545339.1_RNA|CD27-AS1_ENST00000399492.2_RNA	NM_001242.4	NP_001233	P26842	CD27_HUMAN	CD27 molecule	131					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.R131W(1)		kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						GCTGACCGCTCGGTCGTCTCA	0.592													C|||	2	0.000399361	0.0015	0.0	5008	,	,		21325	0.0		0.0	False		,,,				2504	0.0				p.R131W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C391T	12						.	C	TRP/ARG	11,4395	17.9+/-39.9	0,11,2192	146.0	118.0	128.0		391	1.0	0.0	12	dbSNP_134	128	0,8600		0,0,4300	yes	missense	CD27	NM_001242.4	101	0,11,6492	TT,TC,CC		0.0,0.2497,0.0846	benign	131/261	6559461	11,12995	2203	4300	6503	6429722	SO:0001583	missense	939	exon3			M63928	CCDS8545.1	12p13	2014-09-17	2006-10-27	2006-10-27	ENSG00000139193	ENSG00000139193		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11922	protein-coding gene	gene with protein product		186711	"""tumor necrosis factor receptor superfamily, member 7"""	TNFRSF7		2442250, 8530100	Standard	NM_001242		Approved	S152, Tp55	uc001qod.3	P26842	OTTHUMG00000168316	ENST00000266557.3:c.391C>T	12.37:g.6559461C>T	ENSP00000266557:p.Arg131Trp		6429722	NM_001242	B2RDZ0	Missense_Mutation	SNP	ENST00000266557.3	37	CCDS8545.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	7.678	0.688308	0.14973	0.002497	0.0	ENSG00000139193	ENST00000266557	T	0.42900	0.96	3.87	0.966	0.19667	.	3.221120	0.00754	N	0.001088	T	0.34948	0.0915	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13229	-1.0517	10	0.37606	T	0.19	2.0343	6.2572	0.20879	0.0:0.6429:0.1619:0.1952	.	131	P26842	CD27_HUMAN	W	131	ENSP00000266557:R131W	ENSP00000266557:R131W	R	+	1	2	CD27	6429722	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.248000	0.08854	-0.228000	0.09869	-2.069000	0.00389	CGG		0.592	CD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399258.1		
RIMKLB	57494	broad.mit.edu	37	12	8866556	8866556	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:8866556G>A	ENST00000538135.1	+	2	919	c.94G>A	c.(94-96)Gcc>Acc	p.A32T	RIMKLB_ENST00000299673.5_3'UTR|RIMKLB_ENST00000357529.3_Missense_Mutation_p.A32T|RIMKLB_ENST00000535829.1_Missense_Mutation_p.A32T			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	32					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|citrate-L-glutamate ligase activity (GO:0072591)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)	p.A32T(1)		central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						AGCATTGAAGGCCAAATGTTG	0.458																																					p.A32T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G94A	12						.						133.0	138.0	137.0					12																	8866556		1998	4159	6157	8757823	SO:0001583	missense	57494	exon3			AB033064	CCDS41748.1	12p13.31	2011-09-21	2008-10-13	2008-10-13	ENSG00000166532	ENSG00000166532	6.3.2.N6		29228	protein-coding gene	gene with protein product	"""N-acetylaspartyl-glutamate synthetase"""	614054	"""family with sequence similarity 80, member B"""	FAM80B		10574462, 20643647	Standard	XM_006719116		Approved	KIAA1238, NAAGS, NAAGS-I	uc001qux.2	Q9ULI2		ENST00000538135.1:c.94G>A	12.37:g.8866556G>A	ENSP00000440943:p.Ala32Thr		8757823	NM_020734	B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Missense_Mutation	SNP	ENST00000538135.1	37	CCDS41748.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010835	0.54361	.	.	ENSG00000166532	ENST00000541044;ENST00000539923;ENST00000537189;ENST00000535829;ENST00000357529;ENST00000538135	.	.	.	5.54	4.64	0.57946	.	0.261790	0.31531	U	0.007483	T	0.44498	0.1296	N	0.22421	0.69	0.41396	D	0.987644	B;B	0.29805	0.257;0.167	B;B	0.29077	0.098;0.045	T	0.39251	-0.9623	9	0.40728	T	0.16	.	14.4081	0.67096	0.0:0.0:0.851:0.149	.	32;32	Q9ULI2-2;Q9ULI2	.;RIMKB_HUMAN	T	32;32;93;32;32;32	.	ENSP00000350136:A32T	A	+	1	0	RIMKLB	8757823	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.963000	0.49184	1.311000	0.45024	0.650000	0.86243	GCC		0.458	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398874.1	NM_020734	
A2ML1	144568	broad.mit.edu	37	12	8998759	8998759	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:8998759A>G	ENST00000299698.7	+	14	1804	c.1624A>G	c.(1624-1626)Agt>Ggt	p.S542G	A2ML1_ENST00000539547.1_Missense_Mutation_p.S51G|A2ML1_ENST00000540049.1_3'UTR	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1									p.S542G(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CATTTTTCCCAGTGGAGGTGT	0.468																																					p.S542G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1624G	12						.						157.0	140.0	146.0					12																	8998759		1902	4133	6035	8890026	SO:0001583	missense	144568	exon14			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.1624A>G	12.37:g.8998759A>G	ENSP00000299698:p.Ser542Gly		8890026	NM_144670		Missense_Mutation	SNP	ENST00000299698.7	37	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	A	2.061	-0.415475	0.04766	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547;ENST00000545692	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	4.12	1.44	0.22558	Alpha-2-macroglobulin, N-terminal 2 (1);	0.736056	0.12438	N	0.468917	T	0.48059	0.1479	L	0.41824	1.3	0.24826	N	0.992553	B	0.12013	0.005	B	0.22880	0.042	T	0.33777	-0.9855	10	0.14252	T	0.57	.	7.9261	0.29876	0.801:0.0:0.199:0.0	.	542	A8K2U0	A2ML1_HUMAN	G	542;542;92;51;54	ENSP00000299698:S542G;ENSP00000443174:S92G;ENSP00000438292:S51G;ENSP00000440057:S54G	ENSP00000299698:S542G	S	+	1	0	A2ML1	8890026	0.000000	0.05858	0.003000	0.11579	0.496000	0.33645	0.845000	0.27668	0.302000	0.22762	0.533000	0.62120	AGT		0.468	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670	
PZP	5858	broad.mit.edu	37	12	9348987	9348987	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:9348987G>T	ENST00000261336.2	-	10	1059	c.1031C>A	c.(1030-1032)tCc>tAc	p.S344Y	PZP_ENST00000381997.2_Missense_Mutation_p.S213Y	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	344					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.S213Y(1)|p.S344Y(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TTTGAGTTTGGATACAATGTT	0.348																																					p.S344Y	Melanoma(125;1402 1695 4685 34487 38571)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1031A	12						.						126.0	114.0	118.0					12																	9348987		2203	4300	6503	9240254	SO:0001583	missense	5858	exon10			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.1031C>A	12.37:g.9348987G>T	ENSP00000261336:p.Ser344Tyr		9240254	NM_002864	A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	G	9.985	1.229110	0.22542	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.32023	1.67;1.47	3.12	0.866	0.19079	.	0.763269	0.11425	U	0.565432	T	0.42988	0.1227	L	0.49778	1.585	0.09310	N	1	D;P	0.69078	0.997;0.714	D;B	0.63597	0.916;0.313	T	0.20874	-1.0262	10	0.66056	D	0.02	.	8.3547	0.32323	0.0:0.4832:0.5168:0.0	.	213;344	P20742-2;P20742	.;PZP_HUMAN	Y	344;213	ENSP00000261336:S344Y;ENSP00000371427:S213Y	ENSP00000261336:S344Y	S	-	2	0	PZP	9240254	0.184000	0.23200	0.002000	0.10522	0.144000	0.21451	-0.025000	0.12413	0.600000	0.29862	0.306000	0.20318	TCC		0.348	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864	
PDE3A	5139	broad.mit.edu	37	12	20522511	20522511	+	Missense_Mutation	SNP	C	C	T	rs200052001		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:20522511C>T	ENST00000359062.3	+	1	333	c.293C>T	c.(292-294)gCg>gTg	p.A98V	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	98	Poly-Ala.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)	p.A98V(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	GCGGCGGCGGCGGAGGAGGAG	0.741																																					p.A98V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C293T	12						.						4.0	4.0	4.0					12																	20522511		2041	4039	6080	20413778	SO:0001583	missense	5139	exon1				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.293C>T	12.37:g.20522511C>T	ENSP00000351957:p.Ala98Val		20413778	NM_000921	O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	A	12.94	2.088325	0.36855	.	.	ENSG00000172572	ENST00000359062	T	0.63417	-0.04	4.4	-5.38	0.02673	.	1.144360	0.06539	N	0.742936	T	0.42765	0.1217	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.26815	-1.0092	10	0.37606	T	0.19	.	9.2036	0.37275	0.6781:0.2354:0.0:0.0865	.	98	Q14432	PDE3A_HUMAN	V	98	ENSP00000351957:A98V	ENSP00000351957:A98V	A	+	2	0	PDE3A	20413778	0.000000	0.05858	0.003000	0.11579	0.068000	0.16541	-1.510000	0.02262	-1.958000	0.01019	-3.067000	0.00067	GCG		0.741	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2		
RECQL	5965	broad.mit.edu	37	12	21628427	21628427	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:21628427A>T	ENST00000444129.2	-	10	1659	c.1191T>A	c.(1189-1191)aaT>aaA	p.N397K	RECQL_ENST00000421138.2_Missense_Mutation_p.N397K	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	397	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.N397K(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						CTTGGTAATAATTTTCCATGG	0.343								Other identified genes with known or suspected DNA repair function																													p.N397K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1191A	12						.						76.0	71.0	73.0					12																	21628427		2203	4299	6502	21519694	SO:0001583	missense	5965	exon11			D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"""DNA helicase Q1-like"""	600537	"""RecQ protein-like (DNA helicase Q1-like)"""			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.1191T>A	12.37:g.21628427A>T	ENSP00000416739:p.Asn397Lys		21519694	NM_032941	A8K6G2	Missense_Mutation	SNP	ENST00000444129.2	37	CCDS31756.1	.	.	.	.	.	.	.	.	.	.	A	19.93	3.918748	0.73098	.	.	ENSG00000004700	ENST00000444129;ENST00000421138	T;T	0.77358	-1.09;-1.09	5.94	2.36	0.29203	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.86810	0.6022	M	0.85041	2.73	0.54753	D	0.999988	D	0.89917	1.0	D	0.77004	0.989	D	0.85781	0.1361	10	0.59425	D	0.04	-16.9794	9.5098	0.39069	0.6835:0.0:0.3165:0.0	.	397	P46063	RECQ1_HUMAN	K	397	ENSP00000416739:N397K;ENSP00000395449:N397K	ENSP00000395449:N397K	N	-	3	2	RECQL	21519694	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.636000	0.37144	0.495000	0.27882	0.482000	0.46254	AAT		0.343	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1	NM_002907	
KRAS	3845	broad.mit.edu	37	12	25380277	25380278	+	Missense_Mutation	DNP	GA	GA	TT	rs121913238|rs397517037		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	GA	GA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:25380277_25380278GA>TT	ENST00000256078.4	-	3	243_244	c.180_181TC>AA	c.(178-183)ggTCaa>ggAAaa	p.Q61K	AC087239.1_ENST00000594112.1_5'Flank|KRAS_ENST00000557334.1_Intron|KRAS_ENST00000311936.3_Missense_Mutation_p.Q61K	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16533793, ECO:0000269|Ref.7}.|Q -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61K(32)|p.Q61E(10)|p.G60G(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TACTCCTCTTGACCTGCTGTGT	0.411	Q61K(CALU6_LUNG)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											.	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	KRAS,thyroid,NS,Substitution - Missense,+1 	.	43	Substitution - Missense(42)|Substitution - coding silent(1)	large_intestine(13)|lung(11)|thyroid(3)|upper_aerodigestive_tract(3)|central_nervous_system(3)|urinary_tract(3)|prostate(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)|kidney(1)|pancreas(1)	c.180_181AA	12						.																																			25271545	SO:0001583	missense	3845	exon3	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.180_181delinsTT	12.37:g.25380277_25380278delinsTT	ENSP00000256078:p.Gln61Lys		25271544	NM_004985	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	DNP	ENST00000256078.4	37	CCDS8703.1																																																																																				0.411	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360	
H3F3C	440093	broad.mit.edu	37	12	31944862	31944862	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:31944862G>A	ENST00000340398.3	-	1	313	c.239C>T	c.(238-240)aCt>aTt	p.T80I		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	80					positive regulation of cell growth (GO:0030307)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	nucleosomal DNA binding (GO:0031492)	p.T80I(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						CCTCAGGTCAGTGTTGAAATC	0.577										HNSCC(67;0.2)																											p.T80I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C239T	12						.						123.0	114.0	117.0					12																	31944862		2203	4300	6503	31836129	SO:0001583	missense	440093	exon1			BC066906	CCDS31769.1	12p11.21	2012-02-15			ENSG00000188375	ENSG00000188375		"""Histones / Replication-independent"""	33164	protein-coding gene	gene with protein product						21274551	Standard	NM_001013699		Approved	H3.5	uc001rkr.3	Q6NXT2	OTTHUMG00000157811	ENST00000340398.3:c.239C>T	12.37:g.31944862G>A	ENSP00000339835:p.Thr80Ile		31836129	NM_001013699	E9P281	Missense_Mutation	SNP	ENST00000340398.3	37	CCDS31769.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357003	0.41801	.	.	ENSG00000188375	ENST00000340398	T	0.46451	0.87	1.3	1.3	0.21679	Histone-fold (2);Histone core (1);	0.273573	0.20607	N	0.089059	T	0.59945	0.2231	M	0.87381	2.88	0.36471	D	0.867246	P	0.45986	0.87	P	0.57371	0.819	T	0.69862	-0.5030	10	0.87932	D	0	.	8.6214	0.33864	0.0:0.0:1.0:0.0	.	80	Q6NXT2	H3C_HUMAN	I	80	ENSP00000339835:T80I	ENSP00000339835:T80I	T	-	2	0	H3F3C	31836129	1.000000	0.71417	0.003000	0.11579	0.009000	0.06853	6.663000	0.74431	1.049000	0.40321	0.413000	0.27773	ACT		0.577	H3F3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349653.1	NM_001013699	
KIF21A	55605	broad.mit.edu	37	12	39745741	39745741	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:39745741C>T	ENST00000361418.5	-	11	1526	c.1511G>A	c.(1510-1512)cGa>cAa	p.R504Q	KIF21A_ENST00000541463.2_Missense_Mutation_p.R504Q|KIF21A_ENST00000395670.3_Missense_Mutation_p.R504Q|KIF21A_ENST00000544797.2_Missense_Mutation_p.R504Q|KIF21A_ENST00000361961.3_Missense_Mutation_p.R504Q			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	504					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R504Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CAAGTTTTTTCGAAGGTTCTC	0.343																																					p.R504Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1511A	12						.						154.0	151.0	152.0					12																	39745741		2203	4300	6503	38032008	SO:0001583	missense	55605	exon11			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.1511G>A	12.37:g.39745741C>T	ENSP00000354878:p.Arg504Gln		38032008	NM_001173465	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.963866	0.92791	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51	5.85	5.85	0.93711	.	0.000000	0.44688	D	0.000425	D	0.85860	0.5795	M	0.81942	2.565	0.54753	D	0.999987	D;D;P;D;P	0.89917	0.967;0.998;0.822;1.0;0.931	P;D;B;D;P	0.83275	0.47;0.945;0.254;0.996;0.636	D	0.85820	0.1385	10	0.56958	D	0.05	.	20.1731	0.98165	0.0:1.0:0.0:0.0	.	504;504;504;504;504	F5H219;B9EGE4;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;.;KI21A_HUMAN;.	Q	504	ENSP00000354851:R504Q;ENSP00000379029:R504Q;ENSP00000445606:R504Q;ENSP00000354878:R504Q;ENSP00000438075:R504Q	ENSP00000344501:R504Q	R	-	2	0	KIF21A	38032008	1.000000	0.71417	0.997000	0.53966	0.923000	0.55619	7.023000	0.76437	2.768000	0.95171	0.655000	0.94253	CGA		0.343	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641	
KIF21A	55605	broad.mit.edu	37	12	39752159	39752159	+	Missense_Mutation	SNP	C	C	T	rs143166999		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:39752159C>T	ENST00000361418.5	-	8	1051	c.1036G>A	c.(1036-1038)Gca>Aca	p.A346T	KIF21A_ENST00000541463.2_Missense_Mutation_p.A346T|KIF21A_ENST00000395670.3_Missense_Mutation_p.A346T|KIF21A_ENST00000544797.2_Missense_Mutation_p.A346T|KIF21A_ENST00000361961.3_Missense_Mutation_p.A346T			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	346	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A346T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CTGACACATGCTATCATGATT	0.338																																					p.A346T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1036A	12						.	C	THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	200.0	184.0	190.0		1036,1036,1036,1036	4.4	1.0	12	dbSNP_134	190	0,8600		0,0,4300	no	missense,missense,missense,missense	KIF21A	NM_001173463.1,NM_001173464.1,NM_001173465.1,NM_017641.3	58,58,58,58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	346/1638,346/1675,346/1622,346/1662	39752159	1,13005	2203	4300	6503	38038426	SO:0001583	missense	55605	exon8			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.1036G>A	12.37:g.39752159C>T	ENSP00000354878:p.Ala346Thr		38038426	NM_001173465	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	C	31	5.103024	0.94245	2.27E-4	0.0	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463;ENST00000552908	T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	4.44	4.44	0.53790	Kinesin, motor domain (3);	0.000000	0.49916	D	0.000138	D	0.88291	0.6397	M	0.81497	2.545	0.80722	D	1	D;D;P;D;D	0.89917	0.983;0.999;0.675;1.0;0.979	D;D;P;D;D	0.97110	0.95;0.995;0.626;1.0;0.933	D	0.89049	0.3454	10	0.46703	T	0.11	.	17.4392	0.87561	0.0:1.0:0.0:0.0	.	346;346;346;346;346	F5H219;B9EGE4;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;.;KI21A_HUMAN;.	T	346;346;346;346;346;346;169	ENSP00000354851:A346T;ENSP00000379029:A346T;ENSP00000445606:A346T;ENSP00000354878:A346T;ENSP00000438075:A346T;ENSP00000449700:A169T	ENSP00000344501:A346T	A	-	1	0	KIF21A	38038426	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.574000	0.82434	2.161000	0.67846	0.655000	0.94253	GCA		0.338	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641	
ADAMTS20	80070	broad.mit.edu	37	12	43771250	43771250	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:43771250G>T	ENST00000389420.3	-	32	4912	c.4913C>A	c.(4912-4914)cCt>cAt	p.P1638H		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1638	TSP type-1 14. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P1638H(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AGGCACCACAGGGCATTCTTG	0.423																																					p.P1638H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4913A	12						.						130.0	117.0	121.0					12																	43771250		2203	4300	6503	42057517	SO:0001583	missense	80070	exon32			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4913C>A	12.37:g.43771250G>T	ENSP00000374071:p.Pro1638His		42057517	NM_025003	A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	15.53	2.859423	0.51376	.	.	ENSG00000173157	ENST00000389420	T	0.60548	0.18	4.99	4.99	0.66335	.	0.000000	0.51477	D	0.000090	T	0.77018	0.4069	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.78780	-0.2070	10	0.62326	D	0.03	.	19.1624	0.93539	0.0:0.0:1.0:0.0	.	1638	P59510	ATS20_HUMAN	H	1638	ENSP00000374071:P1638H	ENSP00000374071:P1638H	P	-	2	0	ADAMTS20	42057517	1.000000	0.71417	0.978000	0.43139	0.150000	0.21749	6.896000	0.75665	2.709000	0.92574	0.655000	0.94253	CCT		0.423	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003	
FAIM2	23017	broad.mit.edu	37	12	50264399	50264399	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:50264399C>T	ENST00000320634.3	-	12	933	c.839G>A	c.(838-840)cGa>cAa	p.R280Q	FAIM2_ENST00000550890.1_Missense_Mutation_p.R234Q	NM_012306.3	NP_036438.2	Q9BWQ8	LFG2_HUMAN	Fas apoptotic inhibitory molecule 2	280					apoptotic process (GO:0006915)|cerebellar granular layer development (GO:0021681)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum development (GO:0021549)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of neuron apoptotic process (GO:0043524)|regulation of neuron apoptotic process (GO:0043523)|response to ischemia (GO:0002931)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|postsynaptic membrane (GO:0045211)		p.R280Q(1)		endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						CGAGTGGCGTCGGTTACCCAT	0.512																																					p.R280Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G839A	12						.						76.0	67.0	70.0					12																	50264399		2203	4300	6503	48550666	SO:0001583	missense	23017	exon12			AB023167	CCDS8791.1	12q13	2010-03-18				ENSG00000135472			17067	protein-coding gene	gene with protein product	"""transmembrane BAX inhibitor motif containing 2"""	604306				10231032, 10535980	Standard	NM_012306		Approved	KIAA0950, LFG, NMP35, LIFEGUARD, TMBIM2, LFG2	uc001rvj.2	Q9BWQ8	OTTHUMG00000169808	ENST00000320634.3:c.839G>A	12.37:g.50264399C>T	ENSP00000321951:p.Arg280Gln		48550666	NM_012306	A8K1W6|B3KR08|Q9UJY9|Q9Y2F7	Missense_Mutation	SNP	ENST00000320634.3	37	CCDS8791.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.799214	0.90538	.	.	ENSG00000135472	ENST00000320634;ENST00000550890;ENST00000550635;ENST00000552669	T;T;T	0.46819	1.43;0.87;0.86	4.88	4.88	0.63580	.	0.064268	0.64402	D	0.000009	T	0.59362	0.2188	M	0.81179	2.53	0.50039	D	0.999846	D	0.59357	0.985	P	0.48873	0.593	T	0.68100	-0.5498	10	0.66056	D	0.02	-4.184	15.5214	0.75869	0.0:1.0:0.0:0.0	.	280	Q9BWQ8	FAIM2_HUMAN	Q	280;234;280;238	ENSP00000321951:R280Q;ENSP00000450132:R234Q;ENSP00000446771:R238Q	ENSP00000321951:R280Q	R	-	2	0	FAIM2	48550666	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.806000	0.62569	2.266000	0.75297	0.563000	0.77884	CGA		0.512	FAIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405984.1	NM_012306	
CERS5	91012	broad.mit.edu	37	12	50531600	50531600	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:50531600G>T	ENST00000317551.6	-	6	671	c.547C>A	c.(547-549)Ctt>Att	p.L183I	CERS5_ENST00000422340.2_Missense_Mutation_p.L125I	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	183	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|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.L183I(1)									CCACTTGAAAGAGGCTGGAAG	0.403																																					p.L183I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C547A	12						.						81.0	80.0	81.0					12																	50531600		2203	4300	6503	48817867	SO:0001583	missense	91012	exon6				CCDS8801.1, CCDS61120.1	12q13.12	2014-09-04	2011-07-08	2011-07-08	ENSG00000139624			"""Homeoboxes / CERS class"""	23749	protein-coding gene	gene with protein product		615335	"""LAG1 longevity assurance homolog 5 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 5"""	LASS5			Standard	NM_147190		Approved	Trh4, MGC45411, FLJ25304	uc001rwd.4	Q8N5B7	OTTHUMG00000169819	ENST00000317551.6:c.547C>A	12.37:g.50531600G>T	ENSP00000325485:p.Leu183Ile		48817867	NM_147190	B4DV54	Missense_Mutation	SNP	ENST00000317551.6	37	CCDS8801.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.105744	0.37145	.	.	ENSG00000139624	ENST00000551005;ENST00000317551;ENST00000422340	D;D;D	0.85629	-2.01;-2.01;-2.01	5.14	5.14	0.70334	TRAM/LAG1/CLN8 homology domain (3);	0.058394	0.64402	D	0.000001	D	0.83727	0.5317	L	0.59912	1.85	0.80722	D	1	B;B;B	0.30824	0.151;0.195;0.296	B;B;B	0.36766	0.232;0.192;0.101	T	0.79572	-0.1748	10	0.25751	T	0.34	-17.439	14.8649	0.70406	0.0:0.0:0.8561:0.1439	.	125;183;102	B4DV54;Q8N5B7;F8W0U5	.;CERS5_HUMAN;.	I	102;183;125	ENSP00000447556:L102I;ENSP00000325485:L183I;ENSP00000389050:L125I	ENSP00000325485:L183I	L	-	1	0	CERS5	48817867	0.998000	0.40836	1.000000	0.80357	0.405000	0.30901	1.708000	0.37899	2.840000	0.97914	0.655000	0.94253	CTT		0.403	CERS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406069.3	NM_147190	
CSRNP2	81566	broad.mit.edu	37	12	51457703	51457703	+	Silent	SNP	G	G	A	rs373706626		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:51457703G>A	ENST00000228515.1	-	5	1755	c.1458C>T	c.(1456-1458)ccC>ccT	p.P486P		NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	486					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P486P(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						TACAATCTTCGGGCAATAGAG	0.557																																					p.P486P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1458T	12						.	G		0,4406		0,0,2203	101.0	110.0	107.0		1458	-3.2	1.0	12		107	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CSRNP2	NM_030809.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		486/544	51457703	1,13005	2203	4300	6503	49743970	SO:0001819	synonymous_variant	81566	exon5			AJ298133	CCDS8807.1	12q13.11-q13.12	2012-04-17	2009-01-07	2009-01-07				"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16006	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 72"""		"""chromosome 12 open reading frame 22"", ""family with sequence similarity 130, member A1"""	C12orf22, FAM130A1		17726538	Standard	NM_030809		Approved	C12ORF2, TAIP-12, PPP1R72	uc001rxu.2	Q9H175		ENST00000228515.1:c.1458C>T	12.37:g.51457703G>A			49743970	NM_030809		Silent	SNP	ENST00000228515.1	37	CCDS8807.1																																																																																				0.557	CSRNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404893.1		
GALNT6	11226	broad.mit.edu	37	12	51754561	51754561	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:51754561T>C	ENST00000543196.2	-	6	1316	c.1111A>G	c.(1111-1113)Acc>Gcc	p.T371A	GALNT6_ENST00000356317.3_Missense_Mutation_p.T371A			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	371	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.T371A(1)		endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTATCATAGGTACCGATGTGC	0.542																																					p.T371A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1111G	12						.						110.0	95.0	100.0					12																	51754561		2203	4300	6503	50040828	SO:0001583	missense	11226	exon7			Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"""Glycosyltransferase family 2 domain containing"""	4128	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 6"""	605148	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"""			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.1111A>G	12.37:g.51754561T>C	ENSP00000444171:p.Thr371Ala		50040828	NM_007210	Q8IYH4|Q9H6G2|Q9UIV5	Missense_Mutation	SNP	ENST00000543196.2	37	CCDS8813.1	.	.	.	.	.	.	.	.	.	.	T	15.72	2.915552	0.52546	.	.	ENSG00000139629	ENST00000543196;ENST00000356317;ENST00000546163	T;T	0.58652	0.32;0.32	4.41	4.41	0.53225	.	0.104473	0.64402	D	0.000003	T	0.40297	0.1111	N	0.25031	0.7	0.42793	D	0.993902	P	0.36647	0.563	B	0.37601	0.254	T	0.30416	-0.9979	10	0.33940	T	0.23	.	7.5222	0.27635	0.289:0.0:0.0:0.711	.	371	Q8NCL4	GALT6_HUMAN	A	371;371;352	ENSP00000444171:T371A;ENSP00000348668:T371A	ENSP00000348668:T371A	T	-	1	0	GALNT6	50040828	0.965000	0.33210	1.000000	0.80357	0.998000	0.95712	1.249000	0.32839	2.203000	0.70933	0.460000	0.39030	ACC		0.542	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1	NM_007210	
KRT82	3888	broad.mit.edu	37	12	52789830	52789830	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:52789830T>C	ENST00000257974.2	-	7	1332	c.1255A>G	c.(1255-1257)Acc>Gcc	p.T419A	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	419	Coil 2.|Rod.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)	p.T419A(1)		endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		CGCCTGTAGGTGGCGATCTCG	0.602																																					p.T419A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1255G	12						.						78.0	72.0	74.0					12																	52789830		2203	4300	6503	51076097	SO:0001583	missense	3888	exon7			Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6459	protein-coding gene	gene with protein product	"""hard keratin type II 2"""	601078	"""keratin, hair, basic, 2"""	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.1255A>G	12.37:g.52789830T>C	ENSP00000257974:p.Thr419Ala		51076097	NM_033033		Missense_Mutation	SNP	ENST00000257974.2	37	CCDS8826.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.950993	0.92660	.	.	ENSG00000161850	ENST00000257974	D	0.89939	-2.59	4.93	4.93	0.64822	Filament (1);Intermediate filament protein, conserved site (1);	0.000000	0.50627	D	0.000112	D	0.94062	0.8097	M	0.79475	2.455	0.48087	D	0.999582	D	0.89917	1.0	D	0.87578	0.998	D	0.94815	0.7982	10	0.87932	D	0	.	14.7493	0.69513	0.0:0.0:0.0:1.0	.	419	Q9NSB4	KRT82_HUMAN	A	419	ENSP00000257974:T419A	ENSP00000257974:T419A	T	-	1	0	KRT82	51076097	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.647000	0.83462	2.074000	0.62210	0.459000	0.35465	ACC		0.602	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405189.1	NM_033033	
KRT6C	286887	broad.mit.edu	37	12	52862878	52862878	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:52862878A>T	ENST00000252250.6	-	9	1710	c.1663T>A	c.(1663-1665)Tcc>Acc	p.S555T		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	555	Tail.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.S555T(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CTGGAGGAGGAGGTGGTGGTG	0.602																																					p.S555T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1663A	12						.						109.0	106.0	107.0					12																	52862878		2203	4300	6503	51149145	SO:0001583	missense	286887	exon9			L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20406	protein-coding gene	gene with protein product		612315	"""keratin 6E"""	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.1663T>A	12.37:g.52862878A>T	ENSP00000252250:p.Ser555Thr		51149145	NM_173086	A1L4L5|P48666|Q2TAZ9|Q7RTN9	Missense_Mutation	SNP	ENST00000252250.6	37	CCDS8829.1	.	.	.	.	.	.	.	.	.	.	A	0.024	-1.387108	0.01194	.	.	ENSG00000170465	ENST00000252250;ENST00000411979	T	0.81078	-1.45	2.76	-1.81	0.07882	.	0.452253	0.16209	N	0.224548	T	0.47192	0.1432	N	0.03050	-0.425	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.44406	-0.9330	10	0.06236	T	0.91	.	4.8247	0.13410	0.3723:0.1604:0.0:0.4673	.	555	P48668	K2C6C_HUMAN	T	555;540	ENSP00000252250:S555T	ENSP00000252250:S555T	S	-	1	0	KRT6C	51149145	0.028000	0.19301	0.103000	0.21229	0.809000	0.45718	-0.733000	0.04898	-0.515000	0.06479	-0.759000	0.03464	TCC		0.602	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086	
KRT6C	286887	broad.mit.edu	37	12	52865894	52865894	+	Silent	SNP	C	C	T	rs142711454		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:52865894C>T	ENST00000252250.6	-	2	758	c.711G>A	c.(709-711)tcG>tcA	p.S237S		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	237	Coil 1B.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.S237S(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		TTCTCAGCTCCGAGTCCAGGC	0.572																																					p.S237S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G711A	12						.	C		1,4405	2.1+/-5.4	0,1,2202	130.0	94.0	106.0		711	-5.8	0.6	12	dbSNP_134	106	0,8600		0,0,4300	no	coding-synonymous	KRT6C	NM_173086.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		237/565	52865894	1,13005	2203	4300	6503	51152161	SO:0001819	synonymous_variant	286887	exon2			L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20406	protein-coding gene	gene with protein product		612315	"""keratin 6E"""	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.711G>A	12.37:g.52865894C>T			51152161	NM_173086	A1L4L5|P48666|Q2TAZ9|Q7RTN9	Silent	SNP	ENST00000252250.6	37	CCDS8829.1																																																																																				0.572	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086	
KRT3	3850	broad.mit.edu	37	12	53183839	53183839	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:53183839C>T	ENST00000417996.2	-	9	1948	c.1874G>A	c.(1873-1875)cGc>cAc	p.R625H	KRT3_ENST00000309505.3_Missense_Mutation_p.R626H	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	625	Tail.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.R626H(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						TCTGGAGTAGCGctgggagga	0.662																																					p.R625H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1874A	12						.						33.0	58.0	49.0					12																	53183839		1590	2957	4547	51470106	SO:0001583	missense	3850	exon9				CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6440	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 3"", ""cytokeratin 3"""	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.1874G>A	12.37:g.53183839C>T	ENSP00000413479:p.Arg625His		51470106	NM_057088	A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	37	CCDS44895.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024064	0.54683	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	D;D	0.83075	-1.68;-1.67	4.15	2.28	0.28536	.	0.000000	0.38778	N	0.001578	T	0.61236	0.2331	N	0.08118	0	0.23936	N	0.996413	B	0.29301	0.241	B	0.21151	0.033	T	0.57039	-0.7879	10	0.87932	D	0	.	5.4367	0.16486	0.0:0.7483:0.0:0.2517	.	625	P12035	K2C3_HUMAN	H	625;626	ENSP00000413479:R625H;ENSP00000312206:R626H	ENSP00000312206:R626H	R	-	2	0	KRT3	51470106	0.007000	0.16637	0.916000	0.36221	0.953000	0.61014	-0.652000	0.05366	1.036000	0.39998	0.561000	0.74099	CGC		0.662	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088	
NCKAP1L	3071	broad.mit.edu	37	12	54894338	54894338	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:54894338C>T	ENST00000293373.6	+	3	314	c.235C>T	c.(235-237)Cgt>Tgt	p.R79C	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R29C|RP11-753H16.3_ENST00000550474.1_RNA	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	79					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)	p.R79C(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						ACCAGTACATCGTGAAAAAGC	0.378																																					p.R29C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C85T	12						.						174.0	165.0	168.0					12																	54894338		2203	4300	6503	53180605	SO:0001583	missense	3071	exon3			AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.235C>T	12.37:g.54894338C>T	ENSP00000293373:p.Arg79Cys		53180605	NM_001184976	B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954845	0.73902	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.31769	1.48;1.48	5.06	4.11	0.48088	.	0.214383	0.35805	N	0.002964	T	0.37544	0.1007	L	0.36672	1.1	0.42698	D	0.993604	D	0.76494	0.999	P	0.57960	0.83	T	0.12993	-1.0526	10	0.59425	D	0.04	-13.7326	11.3843	0.49776	0.2753:0.7247:0.0:0.0	.	79	P55160	NCKPL_HUMAN	C	79;29	ENSP00000293373:R79C;ENSP00000445596:R29C	ENSP00000293373:R79C	R	+	1	0	NCKAP1L	53180605	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.019000	0.49635	2.506000	0.84524	0.460000	0.39030	CGT		0.378	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337	
NACA	4666	broad.mit.edu	37	12	57113625	57113625	+	Silent	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:57113625G>A	ENST00000454682.1	-	3	1970	c.1689C>T	c.(1687-1689)gtC>gtT	p.V563V	NACA_ENST00000550952.1_Silent_p.V563V|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	563	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.V563V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGGCTGCCTGGACTAACGGTA	0.502			T	BCL6	NHL																																p.V563V			Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1689T	12						.						70.0	72.0	71.0					12																	57113625		1568	3582	5150	55399892	SO:0001819	synonymous_variant	4666	exon3			X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.1689C>T	12.37:g.57113625G>A			55399892	NM_001113203		Silent	SNP	ENST00000454682.1	37																																																																																					0.502	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594	
LRP1	4035	broad.mit.edu	37	12	57592089	57592089	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:57592089C>T	ENST00000243077.3	+	59	9899	c.9433C>T	c.(9433-9435)Cgt>Tgt	p.R3145C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3145					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.R3145C(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)	CTCTGGCCTCCGTGAGCCCAG	0.632																																					p.R3145C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C9433T	12						.						74.0	77.0	76.0					12																	57592089		2203	4300	6503	55878356	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.9433C>T	12.37:g.57592089C>T	ENSP00000243077:p.Arg3145Cys		55878356	NM_002332	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.600629	0.46423	.	.	ENSG00000123384	ENST00000243077	D	0.96200	-3.94	4.66	2.72	0.32119	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.071830	0.52532	D	0.000080	D	0.95959	0.8684	L	0.43923	1.385	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95130	0.8254	10	0.62326	D	0.03	.	12.1977	0.54307	0.4607:0.5393:0.0:0.0	.	3145	Q07954	LRP1_HUMAN	C	3145	ENSP00000243077:R3145C	ENSP00000243077:R3145C	R	+	1	0	LRP1	55878356	1.000000	0.71417	0.963000	0.40424	0.970000	0.65996	1.394000	0.34509	0.594000	0.29761	0.561000	0.74099	CGT		0.632	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332	
AVIL	10677	broad.mit.edu	37	12	58190010	58190010	+	IGR	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:58190010C>T	ENST00000257861.3	-	0	2891				TSFM_ENST00000540550.1_3'UTR|TSFM_ENST00000497617.1_3'UTR|TSFM_ENST00000323833.8_Missense_Mutation_p.P229S|TSFM_ENST00000548851.1_Intron|TSFM_ENST00000543727.1_Intron|TSFM_ENST00000454289.3_Missense_Mutation_p.P208S|TSFM_ENST00000550559.1_Intron|TSFM_ENST00000350762.5_Missense_Mutation_p.P168S	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin						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.P208S(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)					GGTGAAGGTGCCATCTGGGTT	0.468																																					p.P229S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C685T	12						.						58.0	52.0	54.0					12																	58190010		2203	4300	6503	56476277	SO:0001628	intergenic_variant	10102	exon7			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		12.37:g.58190010C>T			56476277	NM_001172696	B2RAU7|Q2NKM9	Missense_Mutation	SNP	ENST00000257861.3	37	CCDS8959.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.762179	0.69763	.	.	ENSG00000123297	ENST00000454289;ENST00000323833;ENST00000350762;ENST00000457189	T;T;T	0.76060	-0.99;-0.99;-0.99	5.1	5.1	0.69264	Translation elongation factor EFTs/EF1B, dimerisation (3);	0.000000	0.85682	D	0.000000	T	0.79695	0.4490	L	0.50333	1.59	0.58432	D	0.999999	P;D;P	0.54207	0.905;0.965;0.86	B;P;P	0.56278	0.376;0.795;0.661	T	0.77245	-0.2659	10	0.33940	T	0.23	.	17.4375	0.87555	0.0:1.0:0.0:0.0	.	168;208;229	F8W6R3;P43897;P43897-2	.;EFTS_HUMAN;.	S	208;229;168;158	ENSP00000388330:P208S;ENSP00000313877:P229S;ENSP00000242983:P168S	ENSP00000313877:P229S	P	+	1	0	TSFM	56476277	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.055000	0.71103	2.657000	0.90304	0.561000	0.74099	CCA		0.468	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576	
USP15	9958	broad.mit.edu	37	12	62715258	62715258	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:62715258G>T	ENST00000280377.5	+	5	547	c.489G>T	c.(487-489)aaG>aaT	p.K163N	USP15_ENST00000312635.6_Missense_Mutation_p.K163N|USP15_ENST00000393654.3_Missense_Mutation_p.K163N|USP15_ENST00000353364.3_Missense_Mutation_p.K163N|USP15_ENST00000550632.1_3'UTR	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	163					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.K163N(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)		CAATTGAAAAGGAAATAAGAA	0.303																																					p.K163N	Melanoma(181;615 2041 39364 49691 50001)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G489T	12						.						35.0	36.0	36.0					12																	62715258		2203	4296	6499	61001525	SO:0001583	missense	9958	exon5			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.489G>T	12.37:g.62715258G>T	ENSP00000280377:p.Lys163Asn		61001525	NM_006313	Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	CCDS58251.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.05|15.05	2.718951|2.718951	0.48622|0.48622	.|.	.|.	ENSG00000135655|ENSG00000135655	ENST00000353364;ENST00000549523;ENST00000280377;ENST00000312635;ENST00000393654;ENST00000548836;ENST00000546694|ENST00000549237	T;T;T|.	0.21543|.	2.01;2.0;2.01|.	5.72|5.72	-1.73|-1.73	0.08081|0.08081	.|.	0.294511|.	0.37623|.	N|.	0.002004|.	T|T	0.52386|0.52386	0.1731|0.1731	L|L	0.52011|0.52011	1.625|1.625	0.51482|0.51482	D|D	0.999923|0.999923	D;D;P|.	0.55385|.	0.971;0.97;0.578|.	P;P;B|.	0.48368|.	0.575;0.501;0.177|.	T|T	0.46992|0.46992	-0.9151|-0.9151	9|5	.|.	.|.	.|.	-12.4562|-12.4562	6.57|6.57	0.22533|0.22533	0.5814:0.0:0.296:0.1226|0.5814:0.0:0.296:0.1226	.|.	163;163;163|.	Q9Y4E8;Q9Y4E8-2;Q9H8G9|.	UBP15_HUMAN;.;.|.	N|M	163;171;163;163;163;109;42|159	ENSP00000258123:K163N;ENSP00000280377:K163N;ENSP00000377264:K163N|.	.|.	K|R	+|+	3|2	2|0	USP15|USP15	61001525|61001525	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.994000|0.994000	0.84299|0.84299	1.772000|1.772000	0.38552|0.38552	-0.181000|-0.181000	0.10619|0.10619	-0.355000|-0.355000	0.07637|0.07637	AAG|AGG		0.303	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313	
NUP107	57122	broad.mit.edu	37	12	69083345	69083345	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:69083345A>G	ENST00000229179.4	+	3	465	c.133A>G	c.(133-135)Act>Gct	p.T45A	NUP107_ENST00000378905.2_5'UTR|RP11-637A17.2_ENST00000500695.2_lincRNA|NUP107_ENST00000539906.1_Missense_Mutation_p.I6M	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	45					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 complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)	p.T45A(1)	NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TTTTGGTAATACTACACCAAG	0.328																																					p.T45A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A133G	12						.						118.0	116.0	117.0					12																	69083345		2203	4300	6503	67369612	SO:0001583	missense	57122	exon3			AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.133A>G	12.37:g.69083345A>G	ENSP00000229179:p.Thr45Ala		67369612	NM_020401	B4DZ67|Q6PJE1	De_novo_Start_OutOfFrame	SNP	ENST00000229179.4	37	CCDS8985.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.534|5.534	0.283455|0.283455	0.10458|0.10458	.|.	.|.	ENSG00000111581|ENSG00000111581	ENST00000539906|ENST00000229179	.|.	.|.	.|.	5.61|5.61	3.19|3.19	0.36642|0.36642	.|.	.|0.561041	.|0.20364	.|N	.|0.093794	T|T	0.22360|0.22360	0.0539|0.0539	N|N	0.12961|0.12961	0.28|0.28	0.18873|0.18873	N|N	0.999984|0.999984	B|B	0.16603|0.02656	0.018|0.0	B|B	0.21360|0.01281	0.034|0.0	T|T	0.19257|0.19257	-1.0311|-1.0311	7|8	.|.	.|.	.|.	-2.638|-2.638	7.7317|7.7317	0.28791|0.28791	0.8305:0.0:0.1695:0.0|0.8305:0.0:0.1695:0.0	.|.	6|45	B4DZ67|P57740	.|NU107_HUMAN	M|A	6|45	.|.	.|.	I|T	+|+	3|1	3|0	NUP107|NUP107	67369612|67369612	0.000000|0.000000	0.05858|0.05858	0.020000|0.020000	0.16555|0.16555	0.421000|0.421000	0.31385|0.31385	0.940000|0.940000	0.28992|0.28992	0.462000|0.462000	0.27095|0.27095	-0.250000|-0.250000	0.11733|0.11733	ATA|ACT		0.328	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401	
PTPRB	5787	broad.mit.edu	37	12	70989883	70989883	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:70989883T>C	ENST00000261266.5	-	3	579	c.550A>G	c.(550-552)Aca>Gca	p.T184A	PTPRB_ENST00000551525.1_Missense_Mutation_p.T401A|PTPRB_ENST00000451516.2_Missense_Mutation_p.T184A|PTPRB_ENST00000334414.6_Missense_Mutation_p.T402A|PTPRB_ENST00000550358.1_Missense_Mutation_p.T402A|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000538708.1_Missense_Mutation_p.T184A|PTPRB_ENST00000550857.1_Missense_Mutation_p.T184A	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	184	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.T402A(1)|p.T184A(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GAAACAGCTGTGATGGCAATA	0.338																																					p.T402A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1204G	12						.						61.0	59.0	60.0					12																	70989883		1842	4088	5930	69276150	SO:0001583	missense	5787	exon5			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.550A>G	12.37:g.70989883T>C	ENSP00000261266:p.Thr184Ala		69276150	NM_001109754	B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	T	13.55	2.272164	0.40194	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49	5.8	3.24	0.37175	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.359609	0.31963	N	0.006782	T	0.56891	0.2016	M	0.62723	1.935	0.09310	N	0.999998	B;B;B;P;B;P;P;P	0.51147	0.312;0.312;0.361;0.942;0.109;0.504;0.56;0.504	B;B;B;P;B;B;B;B	0.55615	0.281;0.281;0.403;0.78;0.157;0.281;0.314;0.373	T	0.48658	-0.9016	10	0.11182	T	0.66	.	10.0139	0.42003	0.1099:0.0:0.1276:0.7625	.	184;184;281;402;401;402;184;402	P23467-2;F5H3G6;Q6ZR19;Q6ZTX7;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;.;PTPRB_HUMAN;.	A	402;184;402;402;184;184;184;401;281	ENSP00000334928:T402A;ENSP00000393028:T184A;ENSP00000448058:T402A;ENSP00000438927:T184A;ENSP00000447302:T184A;ENSP00000261266:T184A;ENSP00000448349:T401A;ENSP00000446982:T281A	ENSP00000261266:T184A	T	-	1	0	PTPRB	69276150	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	1.713000	0.37951	0.985000	0.38656	0.533000	0.62120	ACA		0.338	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1		
PTPRR	5801	broad.mit.edu	37	12	71139683	71139683	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:71139683G>A	ENST00000283228.2	-	6	1374	c.922C>T	c.(922-924)Cga>Tga	p.R308*	PTPRR_ENST00000342084.4_Nonsense_Mutation_p.R196*|PTPRR_ENST00000549308.1_Nonsense_Mutation_p.R63*|PTPRR_ENST00000440835.2_Nonsense_Mutation_p.R63*|PTPRR_ENST00000378778.1_Nonsense_Mutation_p.R102*	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	308					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R308*(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GGAGCACCTCGGCCTTGAGGG	0.522																																					p.R63X												.	.	2	Substitution - Nonsense(2)	large_intestine(1)|endometrium(1)	c.C187T	12						.						178.0	130.0	147.0					12																	71139683		2203	4300	6503	69425950	SO:0001587	stop_gained	5801	exon2			D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.922C>T	12.37:g.71139683G>A	ENSP00000283228:p.Arg308*		69425950	NM_130846	B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Nonsense_Mutation	SNP	ENST00000283228.2	37	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	G	39	7.463931	0.98299	.	.	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308;ENST00000550661	.	.	.	5.53	5.53	0.82687	.	0.435447	0.18193	N	0.148746	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.6172	19.4571	0.94897	0.0:0.0:1.0:0.0	.	.	.	.	X	63;308;102;196;63;63	.	ENSP00000283228:R308X	R	-	1	2	PTPRR	69425950	1.000000	0.71417	0.994000	0.49952	0.871000	0.50021	5.371000	0.66150	2.599000	0.87857	0.655000	0.94253	CGA		0.522	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849	
THAP2	83591	broad.mit.edu	37	12	72068033	72068033	+	Missense_Mutation	SNP	G	G	A	rs183448616		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:72068033G>A	ENST00000308086.2	+	2	1623	c.122G>A	c.(121-123)cGc>cAc	p.R41H	RP11-293I14.2_ENST00000548802.1_Missense_Mutation_p.R17H	NM_031435.3	NP_113623.1	Q9H0W7	THAP2_HUMAN	THAP domain containing, apoptosis associated protein 2	41						nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R41H(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	10						CTGGTTAGGCGCAAAAATTTT	0.368													G|||	1	0.000199681	0.0	0.0	5008	,	,		15661	0.001		0.0	False		,,,				2504	0.0				p.R41H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G122A	12						.						92.0	92.0	92.0					12																	72068033		2203	4300	6503	70354300	SO:0001583	missense	83591	exon2			BC008358	CCDS9001.1	12q21.1	2013-01-25				ENSG00000173451		"""THAP (C2CH-type zinc finger) domain containing"""	20854	protein-coding gene	gene with protein product		612531				12575992	Standard	NM_031435		Approved	DKFZP564I0422	uc001swq.3	Q9H0W7	OTTHUMG00000169556	ENST00000308086.2:c.122G>A	12.37:g.72068033G>A	ENSP00000310796:p.Arg41His		70354300	NM_031435	B2R8P3	Missense_Mutation	SNP	ENST00000308086.2	37	CCDS9001.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	25.9	4.689235	0.88735	.	.	ENSG00000173451	ENST00000308086	D	0.96802	-4.13	5.86	4.96	0.65561	Zinc finger, C2CH-type (4);	0.229093	0.25161	N	0.032673	D	0.96109	0.8732	M	0.90425	3.115	0.80722	D	1	B	0.27971	0.196	B	0.26614	0.071	D	0.94785	0.7957	10	0.62326	D	0.03	.	11.4039	0.49885	0.0854:0.0:0.9146:0.0	.	41	Q9H0W7	THAP2_HUMAN	H	41	ENSP00000310796:R41H	ENSP00000310796:R41H	R	+	2	0	THAP2	70354300	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.794000	0.47853	2.777000	0.95525	0.591000	0.81541	CGC		0.368	THAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404796.1	NM_031435	
PPP1R12A	4659	broad.mit.edu	37	12	80182481	80182481	+	Missense_Mutation	SNP	T	T	C	rs61756420		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:80182481T>C	ENST00000450142.2	-	21	3015	c.2749A>G	c.(2749-2751)Aga>Gga	p.R917G	PPP1R12A_ENST00000546369.1_Missense_Mutation_p.R830G|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.R917G|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.R917G|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.R861G	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	917					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.R917G(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						TAAGGTTTTCTTTCTTCTAAG	0.333																																					p.R830G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2488G	12						.						57.0	57.0	57.0					12																	80182481		1828	4081	5909	78706612	SO:0001583	missense	4659	exon21			D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7618	protein-coding gene	gene with protein product	"""myosin phosphatase-targeting subunit 1"", ""myosin binding subunit"""	602021	"""protein phosphatase 1, regulatory (inhibitor) subunit 12A"""	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.2749A>G	12.37:g.80182481T>C	ENSP00000389168:p.Arg917Gly		78706612	NM_001143886	B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Missense_Mutation	SNP	ENST00000450142.2	37	CCDS44947.1	.	.	.	.	.	.	.	.	.	.	T	19.17	3.775580	0.70107	.	.	ENSG00000058272	ENST00000261207;ENST00000546189;ENST00000360825;ENST00000341878;ENST00000312727;ENST00000450142;ENST00000437004;ENST00000546369;ENST00000550107	T;T;T;T;T	0.39997	1.07;1.07;1.14;1.09;1.05	5.94	5.94	0.96194	.	0.144593	0.64402	D	0.000009	T	0.58264	0.2110	M	0.62723	1.935	0.58432	D	0.999994	D;D;D	0.57899	0.981;0.981;0.967	D;D;D	0.69142	0.962;0.962;0.916	T	0.54629	-0.8265	10	0.26408	T	0.33	.	12.6127	0.56560	0.0:0.0:0.1756:0.8244	rs61756420	917;861;917	O14974-2;O14974-3;O14974	.;.;MYPT1_HUMAN	G	917;917;917;861;858;917;917;830;861	ENSP00000261207:R917G;ENSP00000389168:R917G;ENSP00000416769:R917G;ENSP00000449514:R830G;ENSP00000446855:R861G	ENSP00000261207:R917G	R	-	1	2	PPP1R12A	78706612	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.936000	0.56568	2.275000	0.75901	0.528000	0.53228	AGA		0.333	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407254.2	NM_002480	
LUM	4060	broad.mit.edu	37	12	91501973	91501973	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:91501973A>G	ENST00000266718.4	-	2	1238	c.784T>C	c.(784-786)Tcc>Ccc	p.S262P	LUM_ENST00000548071.1_5'UTR	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	262					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|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)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)	p.S262P(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TTGTTATAGGACAGATCCAGC	0.388																																					p.S262P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T784C	12						.						146.0	142.0	143.0					12																	91501973		2203	4300	6503	90026104	SO:0001583	missense	4060	exon2			BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6724	protein-coding gene	gene with protein product	"""lumican proteoglycan"""	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.784T>C	12.37:g.91501973A>G	ENSP00000266718:p.Ser262Pro		90026104	NM_002345	B2R6R5|Q96QM7	Missense_Mutation	SNP	ENST00000266718.4	37	CCDS9038.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.380985	0.82792	.	.	ENSG00000139329	ENST00000266718	T	0.62232	0.04	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.82370	0.5022	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85944	0.1460	10	0.72032	D	0.01	-19.4874	15.7532	0.78005	1.0:0.0:0.0:0.0	.	262	P51884	LUM_HUMAN	P	262	ENSP00000266718:S262P	ENSP00000266718:S262P	S	-	1	0	LUM	90026104	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.962000	0.93254	2.117000	0.64856	0.460000	0.39030	TCC		0.388	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407150.2	NM_002345	
NR2C1	7181	broad.mit.edu	37	12	95425152	95425152	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:95425152T>C	ENST00000333003.5	-	11	1696	c.1366A>G	c.(1366-1368)Aat>Gat	p.N456D	NR2C1_ENST00000393101.3_Missense_Mutation_p.N456D|NR2C1_ENST00000330677.7_Missense_Mutation_p.N456D|NR2C1_ENST00000545833.1_Intron	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	456					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|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)|zinc ion binding (GO:0008270)	p.N456D(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						TGAAGACAATTGACAAATGTT	0.383																																					p.N456D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1366G	12						.						144.0	141.0	142.0					12																	95425152		2203	4300	6503	93949283	SO:0001583	missense	7181	exon11			M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"""Nuclear hormone receptors"""	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.1366A>G	12.37:g.95425152T>C	ENSP00000333275:p.Asn456Asp		93949283	NM_001127362	A8K5K4|Q15625|Q15626	Missense_Mutation	SNP	ENST00000333003.5	37	CCDS9051.1	.	.	.	.	.	.	.	.	.	.	T	19.59	3.856246	0.71834	.	.	ENSG00000120798	ENST00000333003;ENST00000393101;ENST00000330677	D;D;D	0.96802	-4.13;-2.69;-2.68	5.53	5.53	0.82687	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.086238	0.85682	D	0.000000	D	0.97917	0.9315	M	0.82823	2.61	0.58432	D	0.999998	P;D;D	0.56521	0.673;0.976;0.971	B;P;D	0.66602	0.144;0.723;0.945	D	0.98036	1.0379	10	0.44086	T	0.13	.	15.9481	0.79809	0.0:0.0:0.0:1.0	.	456;456;456	P13056-3;P13056-2;P13056	.;.;NR2C1_HUMAN	D	456	ENSP00000333275:N456D;ENSP00000376813:N456D;ENSP00000328843:N456D	ENSP00000328843:N456D	N	-	1	0	NR2C1	93949283	1.000000	0.71417	1.000000	0.80357	0.286000	0.27126	7.630000	0.83225	2.225000	0.72522	0.460000	0.39030	AAT		0.383	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	NM_003297	
NR2C1	7181	broad.mit.edu	37	12	95452183	95452183	+	Silent	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:95452183A>G	ENST00000333003.5	-	5	777	c.447T>C	c.(445-447)tgT>tgC	p.C149C	NR2C1_ENST00000393101.3_Silent_p.C149C|NR2C1_ENST00000330677.7_Silent_p.C149C|NR2C1_ENST00000545833.1_5'UTR	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	149	Required for interaction with KAT2B. {ECO:0000250}.				gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|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)|zinc ion binding (GO:0008270)	p.C149C(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						TTGATCCTCGACATGAATATA	0.368																																					p.C149C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T447C	12						.						96.0	94.0	95.0					12																	95452183		2203	4300	6503	93976314	SO:0001819	synonymous_variant	7181	exon5			M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"""Nuclear hormone receptors"""	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.447T>C	12.37:g.95452183A>G			93976314	NM_001127362	A8K5K4|Q15625|Q15626	Silent	SNP	ENST00000333003.5	37	CCDS9051.1																																																																																				0.368	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	NM_003297	
ELK3	2004	broad.mit.edu	37	12	96617358	96617358	+	Missense_Mutation	SNP	T	T	C	rs373085274		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:96617358T>C	ENST00000228741.3	+	2	340	c.14T>C	c.(13-15)aTc>aCc	p.I5T	ELK3_ENST00000552142.1_Missense_Mutation_p.I5T|RP11-394J1.2_ENST00000551844.1_RNA	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	5					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|wound healing (GO:0042060)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	purine-rich negative regulatory element binding (GO:0032422)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.I5T(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					GAGAGTGCAATCACGCTGTGG	0.547																																					p.I5T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T14C	12						.						118.0	95.0	103.0					12																	96617358		2203	4300	6503	95141489	SO:0001583	missense	2004	exon2			BC017371	CCDS9060.1	12q23	2006-12-30				ENSG00000111145			3325	protein-coding gene	gene with protein product		600247				7851904	Standard	NM_005230		Approved	ERP, NET, SAP2	uc001teo.1	P41970		ENST00000228741.3:c.14T>C	12.37:g.96617358T>C	ENSP00000228741:p.Ile5Thr		95141489	NM_005230	B2R6S6|Q6FG57|Q6GU29|Q9UD17	Missense_Mutation	SNP	ENST00000228741.3	37	CCDS9060.1	.	.	.	.	.	.	.	.	.	.	t	24.5	4.538023	0.85917	.	.	ENSG00000111145	ENST00000228741;ENST00000547249;ENST00000552142;ENST00000547860	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	5.48	5.48	0.80851	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.55242	0.1908	M	0.82923	2.615	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.61676	-0.7014	10	0.66056	D	0.02	.	15.5812	0.76445	0.0:0.0:0.0:1.0	.	5	P41970	ELK3_HUMAN	T	5	ENSP00000228741:I5T;ENSP00000446806:I5T;ENSP00000449430:I5T;ENSP00000447857:I5T	ENSP00000228741:I5T	I	+	2	0	ELK3	95141489	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.990000	0.88215	2.094000	0.63399	0.459000	0.35465	ATC		0.547	ELK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408694.1	NM_005230	
UHRF1BP1L	23074	broad.mit.edu	37	12	100441858	100441858	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:100441858G>A	ENST00000279907.7	-	18	4047	c.3835C>T	c.(3835-3837)Cag>Tag	p.Q1279*	UHRF1BP1L_ENST00000545232.2_Nonsense_Mutation_p.Q929*	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1279								p.Q1279*(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						ATGTGGCACTGCAGAAATCCA	0.363																																					p.Q1279X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3835T	12						.						51.0	53.0	52.0					12																	100441858		2203	4300	6503	98965989	SO:0001587	stop_gained	23074	exon18				CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.3835C>T	12.37:g.100441858G>A	ENSP00000279907:p.Gln1279*		98965989	NM_015054	A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Nonsense_Mutation	SNP	ENST00000279907.7	37	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	G	36	5.759302	0.96898	.	.	ENSG00000111647	ENST00000279907;ENST00000545232	.	.	.	6.08	6.08	0.98989	.	0.052795	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-12.8278	20.6721	0.99693	0.0:0.0:1.0:0.0	.	.	.	.	X	1279;929	.	ENSP00000279907:Q1279X	Q	-	1	0	UHRF1BP1L	98965989	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.241000	0.78201	2.894000	0.99253	0.591000	0.81541	CAG		0.363	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947	
SETD1B	23067	broad.mit.edu	37	12	122242658	122242658	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:122242658delC	ENST00000604567.1	+	2	83	c.15delC	c.(13-15)cacfs	p.H5fs	RP11-347I19.8_ENST00000609067.1_lincRNA|SETD1B_ENST00000542440.1_Frame_Shift_Del_p.H5fs|RHOF_ENST00000545544.1_5'Flank|SETD1B_ENST00000267197.5_Frame_Shift_Del_p.H5fs			Q9UPS6	SET1B_HUMAN	SET domain containing 1B	5					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-lysine N-methyltransferase activity (GO:0018024)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.H8fs*27(2)		NS(1)|endometrium(6)|kidney(2)|prostate(2)	11						AGAACAGTCACCCCCCCCACC	0.632																																					p.H5fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.15delC	12						.						37.0	44.0	42.0					12																	122242658		692	1591	2283	120727041	SO:0001589	frameshift_variant	23067	exon1			AB028999	CCDS53838.1	12q24.31	2013-02-12			ENSG00000139718	ENSG00000139718		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29187	protein-coding gene	gene with protein product		611055				10470851, 17355966	Standard	NM_015048		Approved	KIAA1076, Set1B, KMT2G	uc001ubi.3	Q9UPS6	OTTHUMG00000169080	ENST00000604567.1:c.15delC	12.37:g.122242658delC	ENSP00000474253:p.His5fs		120727041	NM_015048	F6MFW1	Frame_Shift_Del	DEL	ENST00000604567.1	37																																																																																					0.632	SETD1B-002	PUTATIVE	non_canonical_U12|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000468264.1	XM_037523	
GOLGA3	2802	broad.mit.edu	37	12	133350792	133350792	+	Missense_Mutation	SNP	C	C	T	rs142000244	byFrequency	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:133350792C>T	ENST00000450791.2	-	22	4441	c.4258G>A	c.(4258-4260)Gtg>Atg	p.V1420M	GOLGA3_ENST00000204726.3_Missense_Mutation_p.V1420M			Q08378	GOGA3_HUMAN	golgin A3	1420					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.V1420M(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TCCTTGCTCACGGCGGGCGGT	0.607																																					p.V1420M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4258A	12						.	C	MET/VAL	0,4406		0,0,2203	50.0	51.0	50.0		4258	5.6	1.0	12	dbSNP_134	50	2,8598	1.2+/-3.3	0,2,4298	no	missense	GOLGA3	NM_005895.3	21	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	1420/1499	133350792	2,13004	2203	4300	6503	131860865	SO:0001583	missense	2802	exon23			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.4258G>A	12.37:g.133350792C>T	ENSP00000410378:p.Val1420Met		131860865	NM_005895	A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.015663	0.75161	0.0	2.33E-4	ENSG00000090615	ENST00000204726;ENST00000450791	T;T	0.27256	1.68;1.68	5.58	5.58	0.84498	.	0.112989	0.64402	D	0.000011	T	0.38825	0.1055	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.11792	-1.0573	10	0.66056	D	0.02	.	12.8619	0.57918	0.0:0.9255:0.0:0.0745	.	1420	Q08378	GOGA3_HUMAN	M	1420	ENSP00000204726:V1420M;ENSP00000410378:V1420M	ENSP00000204726:V1420M	V	-	1	0	GOLGA3	131860865	1.000000	0.71417	0.964000	0.40570	0.474000	0.32979	5.501000	0.66950	2.638000	0.89438	0.655000	0.94253	GTG		0.607	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895	
ZNF268	10795	broad.mit.edu	37	12	133778865	133778865	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:133778865delA	ENST00000536435.2	+	6	923	c.593delA	c.(592-594)caafs	p.Q198fs	ZNF268_ENST00000228289.5_Frame_Shift_Del_p.Q198fs|ZNF268_ENST00000537565.1_Frame_Shift_Del_p.Q37fs|ZNF268_ENST00000539248.2_Frame_Shift_Del_p.K124fs|CTD-2140B24.4_ENST00000540096.2_3'UTR|ZNF268_ENST00000542711.2_Frame_Shift_Del_p.K89fs|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000536899.2_Frame_Shift_Del_p.K57fs|ZNF268_ENST00000592241.1_3'UTR|ZNF268_ENST00000541211.2_Frame_Shift_Del_p.K156fs|ZNF268_ENST00000416488.1_3'UTR|ZNF268_ENST00000542986.2_3'UTR	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	198					cell differentiation (GO:0030154)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein heterodimerization activity (GO:0043497)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K199fs*12(1)		NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		CTTTCAAGACAAAAACCTCAT	0.348																																					p.Q198fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.593delA	12						.						67.0	68.0	67.0					12																	133778865		1838	4083	5921	132288938	SO:0001589	frameshift_variant	10795	exon6			X78926	CCDS45012.1, CCDS53851.1, CCDS53852.1, CCDS53853.1, CCDS53854.1, CCDS59239.1, CCDS59240.1	12q24.33	2013-01-08				ENSG00000090612		"""Zinc fingers, C2H2-type"", ""-"""	13061	protein-coding gene	gene with protein product		604753				7865130	Standard	NM_003415		Approved	HZF3	uc010tcf.2	Q14587	OTTHUMG00000167946	ENST00000536435.2:c.593delA	12.37:g.133778865delA	ENSP00000444412:p.Gln198fs		132288938	NM_003415	Q8TDG8|Q96RH4|Q9BZJ9	Frame_Shift_Del	DEL	ENST00000536435.2	37	CCDS45012.1																																																																																				0.348	ZNF268-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397191.2	NM_152943	
ARID2	196528	broad.mit.edu	37	12	46240692	46240695	+	Frame_Shift_Del	DEL	ATAG	ATAG	-			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	ATAG	ATAG	ATAG	-	ATAG	ATAG	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:46240692_46240695delATAG	ENST00000334344.6	+	12	1724_1727	c.1552_1555delATAG	c.(1552-1557)atagatfs	p.ID518fs	ARID2_ENST00000422737.1_Frame_Shift_Del_p.ID369fs|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Frame_Shift_Del_p.ID128fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	518					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.D519fs*9(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)		AATAGTGGAAATAGATAGTGAGAA	0.358			"""N, S, F"""		hepatocellular carcinoma																																p.518_519del			Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1552_1555del	12						.																																			44526962	SO:0001589	frameshift_variant	196528	exon12				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.1552_1555delATAG	12.37:g.46240696_46240699delATAG	ENSP00000335044:p.Ile518fs		44526959	NM_152641	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Frame_Shift_Del	DEL	ENST00000334344.6	37	CCDS31783.1																																																																																				0.358	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875	
WNK1	65125	broad.mit.edu	37	12	968480	968482	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	AGA	AGA	AGA	-	AGA	AGA	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:968480_968482delAGA	ENST00000315939.6	+	6	2113_2115	c.1470_1472delAGA	c.(1468-1473)gcagaa>gca	p.E492del	WNK1_ENST00000530271.2_In_Frame_Del_p.E492del|WNK1_ENST00000535572.1_In_Frame_Del_p.E492del|WNK1_ENST00000537687.1_In_Frame_Del_p.E492del|WNK1_ENST00000540360.1_3'UTR|WNK1_ENST00000340908.4_In_Frame_Del_p.E85del	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	492					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.E492delE(2)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TAGAATTAGCAGAAGAAGATGAT	0.34																																					p.490_491del	Colon(19;451 567 6672 12618 28860)											.	.	2	Deletion - In frame(2)	large_intestine(2)	c.1470_1472del	12						.																																			838743	SO:0001651	inframe_deletion	65125	exon6			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.1470_1472delAGA	12.37:g.968486_968488delAGA	ENSP00000313059:p.Glu492del		838741	NM_001184985	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	In_Frame_Del	DEL	ENST00000315939.6	37	CCDS8506.1																																																																																				0.340	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979	
GOLGA2P5	55592	broad.mit.edu	37	12	100550995	100550995	+	RNA	SNP	C	C	T	rs143096681	byFrequency	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr12:100550995C>T	ENST00000397112.4	-	0	1932				AC010203.1_ENST00000408843.1_RNA|RN7SL176P_ENST00000580352.1_RNA	NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)		p.A110A(1)		large_intestine(1)|lung(3)	4						CTCCTCCTTCCGCACTGCCCT	0.617													C|||	2	0.000399361	0.0	0.0	5008	,	,		13292	0.0		0.0	False		,,,				2504	0.002				.												.	.	1	Substitution - coding silent(1)	large_intestine(1)	.	12						.	C		0,4406		0,0,2203	115.0	95.0	102.0			0.3	0.9	12	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	no	intergenic				0,1,6502	TT,TC,CC		0.0116,0.0,0.0077			100550995	1,13005	2203	4300	6503	99075126			55592	.																															12.37:g.100550995C>T			99075126	.	Q9NSV2	Silent	SNP	ENST00000397112.4	37																																																																																					0.617	GOLGA2B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000396439.2		
NALCN	259232	broad.mit.edu	37	13	101755641	101755641	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr13:101755641G>A	ENST00000251127.6	-	26	3020	c.2939C>T	c.(2938-2940)tCg>tTg	p.S980L		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	980					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.S980L(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTGAGCTCCCGATTCAGCAGG	0.453																																					p.S980L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2939T	13						.						83.0	81.0	81.0					13																	101755641		2203	4300	6503	100553642	SO:0001583	missense	259232	exon26			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2939C>T	13.37:g.101755641G>A	ENSP00000251127:p.Ser980Leu		100553642	NM_052867	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.738887	0.49045	.	.	ENSG00000102452	ENST00000251127	D	0.98493	-4.96	5.03	5.03	0.67393	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98966	0.9648	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.99819	1.1046	10	0.72032	D	0.01	.	18.7562	0.91833	0.0:0.0:1.0:0.0	.	980	Q8IZF0	NALCN_HUMAN	L	980	ENSP00000251127:S980L	ENSP00000251127:S980L	S	-	2	0	NALCN	100553642	1.000000	0.71417	0.457000	0.27056	0.018000	0.09664	9.259000	0.95561	2.488000	0.83962	0.650000	0.86243	TCG		0.453	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867	
MYO16	23026	broad.mit.edu	37	13	109318372	109318372	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr13:109318372G>A	ENST00000357550.2	+	1	142	c.101G>A	c.(100-102)cGc>cAc	p.R34H	MYO16_ENST00000251041.5_Missense_Mutation_p.R34H|MYO16_ENST00000356711.2_Missense_Mutation_p.R34H	NM_001198950.1	NP_001185879.1			myosin XVI									p.R34H(2)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TACTATGAGCGCGAGAAGGCT	0.527																																					p.R56H												.	.	2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|large_intestine(1)	c.G167A	13						.						86.0	76.0	79.0					13																	109318372		2203	4300	6503	108116373	SO:0001583	missense	23026	exon2				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.101G>A	13.37:g.109318372G>A	ENSP00000350160:p.Arg34His		108116373	NM_001198950		Missense_Mutation	SNP	ENST00000357550.2	37	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796598	0.70567	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041	T;T;T	0.49432	0.78;0.78;0.78	5.37	5.37	0.77165	.	0.000000	0.30979	U	0.008491	T	0.57051	0.2027	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.982;0.997	T	0.53933	-0.8368	9	.	.	.	.	18.0975	0.89494	0.0:0.0:1.0:0.0	.	34;34	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	H	34	ENSP00000349145:R34H;ENSP00000350160:R34H;ENSP00000251041:R34H	.	R	+	2	0	MYO16	108116373	1.000000	0.71417	0.030000	0.17652	0.363000	0.29612	9.114000	0.94329	2.506000	0.84524	0.650000	0.86243	CGC		0.527	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011	
TMCO3	55002	broad.mit.edu	37	13	114152699	114152699	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr13:114152699C>A	ENST00000434316.2	+	3	846	c.487C>A	c.(487-489)Caa>Aaa	p.Q163K	TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Missense_Mutation_p.Q163K	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	163						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)	p.Q163K(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)			AGAAAAACATCAAGTTGAAGC	0.363																																					p.Q163K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C487A	13						.						104.0	105.0	104.0					13																	114152699		2203	4300	6503	113200700	SO:0001583	missense	55002	exon3			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.487C>A	13.37:g.114152699C>A	ENSP00000389399:p.Gln163Lys		113200700	NM_017905	Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Missense_Mutation	SNP	ENST00000434316.2	37	CCDS9537.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849366	0.32699	.	.	ENSG00000150403	ENST00000434316;ENST00000375391	T	0.28666	1.6	5.22	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.44180	0.1281	M	0.67953	2.075	0.46011	D	0.998817	P;D	0.63880	0.533;0.993	B;P	0.52881	0.205;0.712	T	0.36089	-0.9762	10	0.28530	T	0.3	-18.8444	15.8873	0.79261	0.0:0.8644:0.1356:0.0	.	163;163	Q6UWJ1;Q6UWJ1-2	TMCO3_HUMAN;.	K	163	ENSP00000389399:Q163K	ENSP00000364540:Q163K	Q	+	1	0	TMCO3	113200700	1.000000	0.71417	0.976000	0.42696	0.367000	0.29736	5.663000	0.68038	1.207000	0.43291	0.555000	0.69702	CAA		0.363	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905	
TUBA3C	7278	broad.mit.edu	37	13	19751323	19751323	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr13:19751323A>G	ENST00000400113.3	-	4	904	c.800T>C	c.(799-801)tTc>tCc	p.F267S		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	267					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.F267S(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GGCCAGGGGGAAGTGGATGCG	0.612																																					p.F267S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T800C	13						.						127.0	117.0	120.0					13																	19751323		2203	4300	6503	18649323	SO:0001583	missense	7278	exon4			AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.800T>C	13.37:g.19751323A>G	ENSP00000382982:p.Phe267Ser		18649323	NM_006001	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	a	11.05	1.524637	0.27299	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	D	0.92595	-3.07	1.19	1.19	0.21007	.	0.000000	0.50627	U	0.000116	D	0.91948	0.7450	.	.	.	0.43130	D	0.994865	.	.	.	.	.	.	D	0.90198	0.4255	7	0.87932	D	0	.	6.5408	0.22378	1.0:0.0:0.0:0.0	.	.	.	.	S	267	ENSP00000382982:F267S	ENSP00000354037:F267S	F	-	2	0	TUBA3C	18649323	1.000000	0.71417	1.000000	0.80357	0.542000	0.35054	7.474000	0.81024	0.806000	0.34183	0.147000	0.16070	TTC		0.612	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001	
PARP4	143	broad.mit.edu	37	13	25052351	25052351	+	Silent	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr13:25052351G>A	ENST00000381989.3	-	13	1617	c.1512C>T	c.(1510-1512)gaC>gaT	p.D504D		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	504	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.D504D(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CGAGGGCTACGTCACAAATGA	0.463																																					p.D504D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1512T	13						.						119.0	94.0	103.0					13																	25052351		2203	4300	6503	23950351	SO:0001819	synonymous_variant	143	exon13			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.1512C>T	13.37:g.25052351G>A			23950351	NM_006437	O75903|Q14682|Q5QNZ9|Q9H1M6	Silent	SNP	ENST00000381989.3	37	CCDS9307.1																																																																																				0.463	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437	
PAN3	255967	broad.mit.edu	37	13	28834653	28834653	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr13:28834653G>A	ENST00000380958.3	+	8	1470	c.1318G>A	c.(1318-1320)Gca>Aca	p.A440T	PAN3_ENST00000282391.5_Missense_Mutation_p.A128T|PAN3_ENST00000399613.1_Missense_Mutation_p.A240T	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit									p.A240T(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		GAAAGCAAACGCACCTTCCTT	0.418																																					p.A440T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1318A	13						.						161.0	139.0	146.0					13																	28834653		2203	4300	6503	27732653	SO:0001583	missense	255967	exon8			AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"""PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.1318G>A	13.37:g.28834653G>A	ENSP00000370345:p.Ala440Thr		27732653	NM_175854		Missense_Mutation	SNP	ENST00000380958.3	37	CCDS9329.2	.	.	.	.	.	.	.	.	.	.	G	34	5.314056	0.95655	.	.	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	T;T;T	0.07567	3.18;3.18;3.18	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.19087	0.0458	L	0.31752	0.955	0.80722	D	1	P;D;D;D	0.76494	0.608;0.998;0.999;0.989	B;P;D;P	0.76575	0.245;0.748;0.988;0.668	T	0.07809	-1.0753	10	0.18710	T	0.47	-14.2913	19.8535	0.96748	0.0:0.0:1.0:0.0	.	440;440;128;386	Q58A45-4;Q58A45;Q58A45-2;Q58A45-3	.;PAN3_HUMAN;.;.	T	440;240;128	ENSP00000370345:A440T;ENSP00000382522:A240T;ENSP00000282391:A128T	ENSP00000282391:A128T	A	+	1	0	PAN3	27732653	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.605000	0.98321	2.686000	0.91538	0.585000	0.79938	GCA		0.418	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854	
MTUS2	23281	broad.mit.edu	37	13	29601037	29601037	+	Silent	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr13:29601037G>A	ENST00000431530.3	+	1	2290	c.2232G>A	c.(2230-2232)caG>caA	p.Q744Q		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	734	Mediates interaction with MAPRE1.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.Q744Q(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGTTTTTGCAGGAGGTAAGAG	0.408																																					p.Q744Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2232A	13						.						50.0	50.0	50.0					13																	29601037		1859	4096	5955	28499037	SO:0001819	synonymous_variant	23281	exon1			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.2232G>A	13.37:g.29601037G>A			28499037	NM_001033602	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	ENST00000431530.3	37	CCDS45022.1																																																																																				0.408	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270	
MTUS2	23281	broad.mit.edu	37	13	29608053	29608053	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr13:29608053G>A	ENST00000431530.3	+	2	2325	c.2267G>A	c.(2266-2268)tGt>tAt	p.C756Y		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	746	Mediates interaction with MAPRE1.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.C756Y(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GAAGAGTTTTGTTCTCCTCCC	0.448																																					p.C756Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2267A	13						.						85.0	81.0	82.0					13																	29608053		1914	4134	6048	28506053	SO:0001583	missense	23281	exon2			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.2267G>A	13.37:g.29608053G>A	ENSP00000392057:p.Cys756Tyr		28506053	NM_001033602	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.874921	0.33069	.	.	ENSG00000132938	ENST00000431530	T	0.15487	2.42	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000017	T	0.38134	0.1029	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.03130	-1.1069	9	.	.	.	.	13.9688	0.64225	0.0:0.1515:0.8485:0.0	.	746	Q5JR59	MTUS2_HUMAN	Y	756	ENSP00000392057:C756Y	.	C	+	2	0	MTUS2	28506053	1.000000	0.71417	0.972000	0.41901	0.045000	0.14185	4.336000	0.59304	2.543000	0.85770	0.655000	0.94253	TGT		0.448	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270	
B3GALTL	145173	broad.mit.edu	37	13	31843393	31843393	+	Silent	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr13:31843393T>C	ENST00000343307.4	+	8	788	c.639T>C	c.(637-639)ttT>ttC	p.F213F	B3GALTL_ENST00000461652.2_3'UTR	NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	213					fucose metabolic process (GO:0006004)|protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.F213F(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		AATCCGACTTTACAATAGATT	0.299																																					p.F213F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T639C	13						.						67.0	66.0	66.0					13																	31843393		2201	4298	6499	30741393	SO:0001819	synonymous_variant	145173	exon8			AB101481	CCDS9341.1	13q12.3	2014-03-24			ENSG00000187676	ENSG00000187676		"""Beta 3-glycosyltransferases"""	20207	protein-coding gene	gene with protein product		610308				12943678, 16899492, 17032646	Standard	NM_194318		Approved	B3GTL, B3Glc-T	uc010aaz.3	Q6Y288	OTTHUMG00000016688	ENST00000343307.4:c.639T>C	13.37:g.31843393T>C			30741393	NM_194318	A8K5F8|Q5W0H2|Q6NUI3	Silent	SNP	ENST00000343307.4	37	CCDS9341.1																																																																																				0.299	B3GALTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044396.3	NM_194318	
CCNA1	8900	broad.mit.edu	37	13	37007320	37007320	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr13:37007320C>T	ENST00000255465.4	+	2	523	c.259C>T	c.(259-261)Cta>Tta	p.L87L	CCNA1_ENST00000463403.1_3'UTR|CCNA1_ENST00000418263.1_Silent_p.L86L|CCNA1_ENST00000449823.1_Silent_p.L43L|CCNA1_ENST00000440264.1_Silent_p.L43L			P78396	CCNA1_HUMAN	cyclin A1	87					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)		p.L87L(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		GCTAGGGCTGCTAACTGCAAA	0.577																																					p.L43L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C127T	13						.						58.0	59.0	58.0					13																	37007320		2203	4300	6503	35905320	SO:0001819	synonymous_variant	8900	exon2			U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.259C>T	13.37:g.37007320C>T			35905320	NM_001111047	B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Silent	SNP	ENST00000255465.4	37	CCDS9357.1																																																																																				0.577	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914	
CCNA1	8900	broad.mit.edu	37	13	37012842	37012842	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr13:37012842G>A	ENST00000255465.4	+	5	995	c.731G>A	c.(730-732)cGc>cAc	p.R244H	CCNA1_ENST00000418263.1_Missense_Mutation_p.R243H|CCNA1_ENST00000449823.1_Missense_Mutation_p.R200H|CCNA1_ENST00000440264.1_Missense_Mutation_p.R200H			P78396	CCNA1_HUMAN	cyclin A1	244					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)		p.R244H(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		GAAGGCATGCGCACGATTCTG	0.473																																					p.R200H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G599A	13						.						110.0	98.0	102.0					13																	37012842		2203	4300	6503	35910842	SO:0001583	missense	8900	exon5			U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.731G>A	13.37:g.37012842G>A	ENSP00000255465:p.Arg244His		35910842	NM_001111047	B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Missense_Mutation	SNP	ENST00000255465.4	37	CCDS9357.1	.	.	.	.	.	.	.	.	.	.	G	32	5.158694	0.94686	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.33	5.33	0.75918	Cyclin, N-terminal (2);Cyclin-like (2);	0.000000	0.85682	D	0.000000	D	0.86548	0.5959	H	0.99789	4.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92882	0.6324	10	0.87932	D	0	.	19.3924	0.94590	0.0:0.0:1.0:0.0	.	243;244	P78396-2;P78396	.;CCNA1_HUMAN	H	200;200;243;244	ENSP00000400666:R200H;ENSP00000409873:R200H;ENSP00000396479:R243H;ENSP00000255465:R244H	ENSP00000255465:R244H	R	+	2	0	CCNA1	35910842	1.000000	0.71417	0.955000	0.39395	0.761000	0.43186	9.445000	0.97587	2.641000	0.89580	0.650000	0.86243	CGC		0.473	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914	
SMAD9	4093	broad.mit.edu	37	13	37453544	37453544	+	Missense_Mutation	SNP	C	C	T	rs370858678		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr13:37453544C>T	ENST00000399275.2	-	1	422	c.283G>A	c.(283-285)Gtg>Atg	p.V95M	SMAD9_ENST00000379826.4_Missense_Mutation_p.V95M|SMAD9_ENST00000483941.1_5'Flank|SMAD9_ENST00000350148.5_Missense_Mutation_p.V95M			O15198	SMAD9_HUMAN	SMAD family member 9	95	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)	p.V95M(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		CAGCGCCACACGCGACAGTAA	0.632																																					p.V95M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G283A	13						.						35.0	37.0	37.0					13																	37453544		2203	4300	6503	36351544	SO:0001583	missense	4093	exon2				CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693		"""SMADs"""	6774	protein-coding gene	gene with protein product		603295	"""MAD, mothers against decapentaplegic homolog 9 (Drosophila)"", ""SMAD, mothers against DPP homolog 9 (Drosophila)"""	MADH6, MADH9		9205116	Standard	NM_001127217		Approved		uc001uvw.3	O15198	OTTHUMG00000016740	ENST00000399275.2:c.283G>A	13.37:g.37453544C>T	ENSP00000382216:p.Val95Met		36351544	NM_005905	A2A2Y6|O14989|Q5TBA1	Missense_Mutation	SNP	ENST00000399275.2	37	CCDS45032.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.946172	0.53079	.	.	ENSG00000120693	ENST00000399275;ENST00000350148;ENST00000379826	T;T;T	0.80304	-1.36;-1.36;-1.36	5.53	5.53	0.82687	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	D	0.89556	0.6749	M	0.73753	2.245	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.81914	0.726;0.995	D	0.89514	0.3773	10	0.52906	T	0.07	.	18.4517	0.90705	0.0:1.0:0.0:0.0	.	95;95	O15198-2;O15198	.;SMAD9_HUMAN	M	95	ENSP00000382216:V95M;ENSP00000239885:V95M;ENSP00000369154:V95M	ENSP00000239885:V95M	V	-	1	0	SMAD9	36351544	1.000000	0.71417	0.962000	0.40283	0.067000	0.16453	7.762000	0.85270	2.599000	0.87857	0.563000	0.77884	GTG		0.632	SMAD9-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044525.2	NM_005905	
POSTN	10631	broad.mit.edu	37	13	38164596	38164596	+	Silent	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr13:38164596G>A	ENST00000379747.4	-	4	471	c.354C>T	c.(352-354)gaC>gaT	p.D118D	POSTN_ENST00000541179.1_Silent_p.D118D|POSTN_ENST00000379742.4_Silent_p.D118D|POSTN_ENST00000541481.1_Silent_p.D118D|POSTN_ENST00000379749.4_Silent_p.D118D|POSTN_ENST00000379743.4_Silent_p.D118D	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	118	FAS1 1. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)	p.D118D(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		GTTTTGAGGCGTCAGAATAGC	0.458																																					p.D118D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C354T	13						.						113.0	98.0	103.0					13																	38164596		2203	4300	6503	37062596	SO:0001819	synonymous_variant	10631	exon4			D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.354C>T	13.37:g.38164596G>A			37062596	NM_001135934	B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Silent	SNP	ENST00000379747.4	37	CCDS9364.1																																																																																				0.458	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475	
ELF1	1997	broad.mit.edu	37	13	41507949	41507949	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr13:41507949G>A	ENST00000239882.3	-	9	1786	c.1472C>T	c.(1471-1473)gCg>gTg	p.A491V	ELF1_ENST00000442101.1_Missense_Mutation_p.A467V|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	491					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|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 RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A491V(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		AGGAGAGCCCGCCTTTTGTGA	0.483																																					p.A491V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1472T	13						.						127.0	135.0	132.0					13																	41507949		2203	4300	6503	40405949	SO:0001583	missense	1997	exon9			M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.1472C>T	13.37:g.41507949G>A	ENSP00000239882:p.Ala491Val		40405949	NM_172373	B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Missense_Mutation	SNP	ENST00000239882.3	37	CCDS9374.1	.	.	.	.	.	.	.	.	.	.	G	8.171	0.791692	0.16258	.	.	ENSG00000120690	ENST00000442101;ENST00000379498;ENST00000239882	T;T	0.42513	0.97;0.97	5.21	3.41	0.39046	.	0.334193	0.29205	N	0.012837	T	0.21921	0.0528	N	0.08118	0	0.22796	N	0.998728	B;B	0.23185	0.001;0.081	B;B	0.14578	0.002;0.011	T	0.12091	-1.0561	10	0.15066	T	0.55	.	13.9678	0.64221	0.0:0.0:0.7228:0.2772	.	467;491	E9PDQ9;P32519	.;ELF1_HUMAN	V	467;233;491	ENSP00000405580:A467V;ENSP00000239882:A491V	ENSP00000239882:A491V	A	-	2	0	ELF1	40405949	1.000000	0.71417	0.663000	0.29738	0.306000	0.27790	3.759000	0.55227	0.530000	0.28619	0.591000	0.81541	GCG		0.483	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044654.3	NM_172373	
ELF1	1997	broad.mit.edu	37	13	41515376	41515376	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr13:41515376G>A	ENST00000239882.3	-	8	1251	c.937C>T	c.(937-939)Cca>Tca	p.P313S	ELF1_ENST00000442101.1_Missense_Mutation_p.P289S|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	313					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|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 RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P313S(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		GATAGCGATGGATCTGAAGAC	0.418																																					p.P313S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C937T	13						.						112.0	124.0	120.0					13																	41515376		2203	4300	6503	40413376	SO:0001583	missense	1997	exon8			M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.937C>T	13.37:g.41515376G>A	ENSP00000239882:p.Pro313Ser		40413376	NM_172373	B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Missense_Mutation	SNP	ENST00000239882.3	37	CCDS9374.1	.	.	.	.	.	.	.	.	.	.	G	2.825	-0.243855	0.05906	.	.	ENSG00000120690	ENST00000442101;ENST00000379498;ENST00000239882	T;T	0.53857	0.6;0.6	5.47	3.46	0.39613	.	0.380726	0.28360	N	0.015622	T	0.30696	0.0773	N	0.17082	0.46	0.09310	N	0.999998	B;B	0.09022	0.001;0.002	B;B	0.08055	0.002;0.003	T	0.13124	-1.0521	10	0.34782	T	0.22	.	4.5591	0.12151	0.2763:0.3066:0.417:0.0	.	289;313	E9PDQ9;P32519	.;ELF1_HUMAN	S	289;55;313	ENSP00000405580:P289S;ENSP00000239882:P313S	ENSP00000239882:P313S	P	-	1	0	ELF1	40413376	1.000000	0.71417	0.700000	0.30305	0.153000	0.21895	0.788000	0.26872	0.586000	0.29626	-0.175000	0.13238	CCA		0.418	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044654.3	NM_172373	
KBTBD7	84078	broad.mit.edu	37	13	41767362	41767362	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr13:41767362C>A	ENST00000379483.3	-	1	1340	c.1032G>T	c.(1030-1032)gaG>gaT	p.E344D		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	344								p.E344D(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		AGATCACCATCTCCTTGGCAC	0.512																																					p.E344D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1032T	13						.						76.0	44.0	55.0					13																	41767362		2203	4297	6500	40665362	SO:0001583	missense	84078	exon1			AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.1032G>T	13.37:g.41767362C>A	ENSP00000368797:p.Glu344Asp		40665362	NM_032138	B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	ENST00000379483.3	37	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	C	9.588	1.125395	0.20959	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	T	0.77750	-1.12	4.9	4.06	0.47325	Kelch-type beta propeller (1);	0.065963	0.64402	U	0.000018	T	0.64746	0.2626	L	0.33339	1.005	0.40024	D	0.975449	B	0.16166	0.016	B	0.09377	0.004	T	0.57493	-0.7802	10	0.18710	T	0.47	.	10.9423	0.47281	0.0:0.9077:0.0:0.0923	.	344	Q8WVZ9	KBTB7_HUMAN	D	344;246	ENSP00000368797:E344D	ENSP00000368797:E344D	E	-	3	2	KBTBD7	40665362	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	0.502000	0.22594	1.048000	0.40298	0.557000	0.71058	GAG		0.512	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138	
SUCLA2	8803	broad.mit.edu	37	13	48523627	48523627	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr13:48523627G>A	ENST00000378654.3	-	9	1275	c.1219C>T	c.(1219-1221)Cgg>Tgg	p.R407W	SUCLA2_ENST00000543413.1_Missense_Mutation_p.R349W|SUCLA2_ENST00000534875.1_Missense_Mutation_p.R349W|SUCLA2_ENST00000544100.1_Missense_Mutation_p.R273W	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	407					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|succinyl-CoA pathway (GO:0006781)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)	p.R407W(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	CCTTGTAACCGTACCACAACA	0.348																																					p.R407W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1219T	13						.						115.0	111.0	112.0					13																	48523627		2203	4300	6503	47421628	SO:0001583	missense	8803	exon9			AF058953	CCDS9406.1	13q12.2-q13.3	2010-04-16			ENSG00000136143	ENSG00000136143	6.2.1.5		11448	protein-coding gene	gene with protein product		603921				9765291	Standard	NM_003850		Approved		uc001vbs.3	Q9P2R7	OTTHUMG00000016889	ENST00000378654.3:c.1219C>T	13.37:g.48523627G>A	ENSP00000367923:p.Arg407Trp		47421628	NM_003850	B2RDE7|O95194|Q5T9Q4|Q5T9Q6|Q9NV21|Q9NVP7	Missense_Mutation	SNP	ENST00000378654.3	37	CCDS9406.1	.	.	.	.	.	.	.	.	.	.	g	20.8	4.046022	0.75846	.	.	ENSG00000136143	ENST00000378654;ENST00000378645;ENST00000544100;ENST00000534875;ENST00000543413;ENST00000541732	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	4.57	4.57	0.56435	Succinyl-CoA synthetase-like (2);ATP-citrate lyase/succinyl-CoA ligase (1);	0.000000	0.85682	D	0.000000	D	0.87485	0.6189	H	0.96015	3.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91871	0.5507	10	0.87932	D	0	-0.0058	16.7109	0.85385	0.0:0.0:1.0:0.0	.	407	Q9P2R7	SUCB1_HUMAN	W	407;385;273;349;349;235	ENSP00000367923:R407W;ENSP00000443412:R273W;ENSP00000438182:R349W;ENSP00000441056:R349W	ENSP00000367912:R385W	R	-	1	2	SUCLA2	47421628	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	7.391000	0.79828	2.228000	0.72767	0.491000	0.48974	CGG		0.348	SUCLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044852.1		
MLNR	2862	broad.mit.edu	37	13	49796467	49796467	+	Missense_Mutation	SNP	C	C	T	rs200347707		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr13:49796467C>T	ENST00000218721.1	+	2	1193	c.1193C>T	c.(1192-1194)aCg>aTg	p.T398M	MLNR_ENST00000398307.1_3'UTR	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	398					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone-releasing hormone receptor activity (GO:0016520)	p.T398M(1)		endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		GGAGGAGACACGGTGGGCTAC	0.582																																					p.T398M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1193T	13						.	C	MET/THR	0,4406		0,0,2203	50.0	51.0	51.0		1193	2.8	0.2	13		51	1,8599	1.2+/-3.3	0,1,4299	no	missense	MLNR	NM_001507.1	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	398/413	49796467	1,13005	2203	4300	6503	48694468	SO:0001583	missense	2862	exon2			AF034632	CCDS9414.1	13q14-q21	2012-08-08	2004-05-27	2004-05-28	ENSG00000102539	ENSG00000102539		"""GPCR / Class A : Motilin receptors"""	4495	protein-coding gene	gene with protein product		602885	"""G protein-coupled receptor 38"""	GPR38		9441746	Standard	NM_001507		Approved		uc010tgj.2	O43193	OTTHUMG00000016909	ENST00000218721.1:c.1193C>T	13.37:g.49796467C>T	ENSP00000218721:p.Thr398Met		48694468	NM_001507		Missense_Mutation	SNP	ENST00000218721.1	37	CCDS9414.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.265685	0.59431	0.0	1.16E-4	ENSG00000102539	ENST00000218721	T	0.70282	-0.47	5.49	2.83	0.33086	.	0.647395	0.14686	U	0.304453	T	0.47710	0.1460	L	0.27053	0.805	0.32292	N	0.566175	P	0.49358	0.923	B	0.30316	0.114	T	0.56214	-0.8016	10	0.72032	D	0.01	.	6.6744	0.23085	0.0:0.6964:0.1463:0.1573	.	398	O43193	MTLR_HUMAN	M	398	ENSP00000218721:T398M	ENSP00000218721:T398M	T	+	2	0	MLNR	48694468	0.000000	0.05858	0.202000	0.23494	0.045000	0.14185	0.896000	0.28377	0.282000	0.22254	0.650000	0.86243	ACG		0.582	MLNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044897.1	NM_001507	
ARL11	115761	broad.mit.edu	37	13	50204663	50204663	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr13:50204663C>T	ENST00000282026.1	+	2	415	c.80C>T	c.(79-81)aCg>aTg	p.T27M	ARL11_ENST00000490932.1_Intron	NM_138450.5	NP_612459.1	Q969Q4	ARL11_HUMAN	ADP-ribosylation factor-like 11	27					hematopoietic progenitor cell differentiation (GO:0002244)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)	p.T27M(1)		kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		GGCAAGACCACGCTCCTTTAC	0.587																																					p.T27M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C80T	13						.						66.0	68.0	67.0					13																	50204663		2203	4300	6503	49102664	SO:0001583	missense	115761	exon2			AF441378	CCDS9419.1	13q14.12	2014-05-09			ENSG00000152213	ENSG00000152213		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	24046	protein-coding gene	gene with protein product		609351				12477932	Standard	NM_138450		Approved	ARLTS1, FLJ33930	uc001vdf.2	Q969Q4	OTTHUMG00000016919	ENST00000282026.1:c.80C>T	13.37:g.50204663C>T	ENSP00000282026:p.Thr27Met		49102664	NM_138450		Missense_Mutation	SNP	ENST00000282026.1	37	CCDS9419.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236347	0.79800	.	.	ENSG00000152213	ENST00000282026	D	0.89810	-2.57	5.2	4.36	0.52297	Small GTP-binding protein domain (1);	0.052483	0.85682	N	0.000000	D	0.95364	0.8495	H	0.98833	4.345	0.58432	D	0.999998	D	0.71674	0.998	P	0.52386	0.697	D	0.96264	0.9193	10	0.87932	D	0	1.3009	12.9985	0.58662	0.0:0.9221:0.0:0.0779	.	27	Q969Q4	ARL11_HUMAN	M	27	ENSP00000282026:T27M	ENSP00000282026:T27M	T	+	2	0	ARL11	49102664	1.000000	0.71417	0.990000	0.47175	0.932000	0.56968	5.670000	0.68088	1.194000	0.43101	-0.150000	0.13652	ACG		0.587	ARL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044929.2	NM_138450	
SPRYD7	57213	broad.mit.edu	37	13	50505205	50505205	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr13:50505205C>T	ENST00000361840.3	-	2	276	c.172G>A	c.(172-174)Gca>Aca	p.A58T	SPRYD7_ENST00000378195.2_Intron|SPRYD7_ENST00000492258.1_5'UTR	NM_020456.2	NP_065189.1	Q5W111	SPRY7_HUMAN	SPRY domain containing 7	58	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.							p.A58T(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)	6						TGTAAAGGTGCGCTGGCTAAA	0.323																																					p.A58T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G172A	13						.						129.0	126.0	127.0					13																	50505205		2202	4300	6502	49403206	SO:0001583	missense	57213	exon2			AF055016	CCDS9422.1, CCDS45046.1	13q14.3	2011-05-25	2011-05-25	2011-05-25	ENSG00000123178	ENSG00000123178			14297	protein-coding gene	gene with protein product		607866	"""chromosome 13 open reading frame 1"""	C13orf1		11306461, 11771308	Standard	NM_020456		Approved	CLLD6	uc001vdl.2	Q5W111	OTTHUMG00000016924	ENST00000361840.3:c.172G>A	13.37:g.50505205C>T	ENSP00000354774:p.Ala58Thr		49403206	NM_020456	A8K3G1|O60648|Q8TBG8|Q96T69	Missense_Mutation	SNP	ENST00000361840.3	37	CCDS9422.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057900	0.76074	.	.	ENSG00000123178	ENST00000361840	T	0.59224	0.28	5.35	5.35	0.76521	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	T	0.51702	0.1690	L	0.49126	1.545	0.80722	D	1	B;P	0.35011	0.299;0.48	B;B	0.27715	0.015;0.082	T	0.51442	-0.8705	10	0.33141	T	0.24	-13.9759	19.126	0.93384	0.0:1.0:0.0:0.0	.	58;58	B2RE68;Q5W111	.;SPRY7_HUMAN	T	58	ENSP00000354774:A58T	ENSP00000354774:A58T	A	-	1	0	SPRYD7	49403206	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.758000	0.85224	2.512000	0.84698	0.650000	0.86243	GCA		0.323	SPRYD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044942.2	NM_020456	
TDRD3	81550	broad.mit.edu	37	13	61102514	61102514	+	Silent	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr13:61102514G>A	ENST00000196169.3	+	11	1664	c.876G>A	c.(874-876)caG>caA	p.Q292Q	TDRD3_ENST00000377894.2_Silent_p.Q292Q|TDRD3_ENST00000377881.2_Silent_p.Q292Q|TDRD3_ENST00000535286.1_Silent_p.Q385Q	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	292					chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)	p.Q292Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		CTAAATCACAGCCACAGCAGC	0.318																																					p.Q292Q	Colon(36;164 906 35820 50723)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G876A	13						.						90.0	88.0	88.0					13																	61102514		2202	4299	6501	60000515	SO:0001819	synonymous_variant	81550	exon11			AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"""Tudor domain containing"""	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.876G>A	13.37:g.61102514G>A			60000515	NM_001146071	B2MWP9|Q53XA6|Q6P992	Silent	SNP	ENST00000196169.3	37	CCDS9441.1																																																																																				0.318	TDRD3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045175.2	NM_030794	
KLHL1	57626	broad.mit.edu	37	13	70514322	70514322	+	Silent	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr13:70514322T>C	ENST00000377844.4	-	4	1623	c.864A>G	c.(862-864)gcA>gcG	p.A288A	KLHL1_ENST00000545028.1_Silent_p.A95A	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	288					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.A288A(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)		GAAGGCACGCTGCAGCAAGAA	0.413																																					p.A288A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A864G	13						.						72.0	66.0	68.0					13																	70514322		2203	4300	6503	69412323	SO:0001819	synonymous_variant	57626	exon4			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.864A>G	13.37:g.70514322T>C			69412323	NM_020866	A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Silent	SNP	ENST00000377844.4	37	CCDS9445.1																																																																																				0.413	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866	
DOCK9	23348	broad.mit.edu	37	13	99582507	99582507	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr13:99582507G>A	ENST00000376460.1	-	3	328	c.248C>T	c.(247-249)gCc>gTc	p.A83V	DOCK9_ENST00000442173.1_Missense_Mutation_p.A83V|DOCK9_ENST00000339416.2_Missense_Mutation_p.A84V|DOCK9_ENST00000448493.2_Missense_Mutation_p.A95V	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	84	Interaction with activated CDC42. {ECO:0000250}.				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.A84V(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)					TCTCAGGATGGCCGTCTGGAA	0.552																																					p.A83V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C248T	13						.						63.0	62.0	63.0					13																	99582507		2007	4172	6179	98380508	SO:0001583	missense	23348	exon3			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.248C>T	13.37:g.99582507G>A	ENSP00000365643:p.Ala83Val		98380508	NM_001130050	B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151515	0.57151	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173;ENST00000427887	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	5.68	4.82	0.62117	.	0.192567	0.46442	D	0.000300	T	0.40297	0.1111	L	0.31420	0.93	0.42653	D	0.993453	B;B;B;P	0.41848	0.075;0.277;0.354;0.763	B;B;B;P	0.46208	0.297;0.297;0.205;0.507	T	0.15093	-1.0449	9	.	.	.	.	16.4934	0.84208	0.0:0.1311:0.8689:0.0	.	84;83;83;84	A6H8Z6;E9PFM9;Q9BZ29-5;Q9BZ29	.;.;.;DOCK9_HUMAN	V	83;84;84;84;83;84;95;83;84	ENSP00000365643:A83V;ENSP00000341086:A84V;ENSP00000401958:A95V;ENSP00000406883:A83V;ENSP00000413781:A84V	.	A	-	2	0	DOCK9	98380508	1.000000	0.71417	0.423000	0.26634	0.910000	0.53928	5.998000	0.70653	1.358000	0.45922	0.655000	0.94253	GCC		0.552	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296	
TMCO3	55002	broad.mit.edu	37	13	114201633	114201633	+	Missense_Mutation	SNP	C	C	T	rs142314118	byFrequency	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr13:114201633C>T	ENST00000434316.2	+	11	2068	c.1709C>T	c.(1708-1710)aCg>aTg	p.T570M	TMCO3_ENST00000375391.1_Intron	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	570						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)	p.T570M(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)			GTGTTCCCCACGTTTGTGGCG	0.577																																					p.T570M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1709T	13						.	T	MET/THR	2,4404	4.2+/-10.8	0,2,2201	252.0	166.0	195.0		1709	3.9	0.9	13	dbSNP_134	195	0,8600		0,0,4300	yes	missense	TMCO3	NM_017905.4	81	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	570/678	114201633	2,13004	2203	4300	6503	113249634	SO:0001583	missense	55002	exon11			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.1709C>T	13.37:g.114201633C>T	ENSP00000389399:p.Thr570Met		113249634	NM_017905	Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Missense_Mutation	SNP	ENST00000434316.2	37	CCDS9537.1	.	.	.	.	.	.	.	.	.	.	c	15.56	2.868521	0.51588	4.54E-4	0.0	ENSG00000150403	ENST00000434316	T	0.15718	2.4	4.78	3.94	0.45596	Cation/H+ exchanger (1);	0.114128	0.64402	N	0.000017	T	0.34135	0.0887	M	0.71581	2.175	0.80722	D	1	D	0.71674	0.998	P	0.59221	0.854	T	0.06391	-1.0829	10	0.33940	T	0.23	-24.468	13.2215	0.59890	0.0:0.9225:0.0:0.0775	.	570	Q6UWJ1	TMCO3_HUMAN	M	570	ENSP00000389399:T570M	ENSP00000389399:T570M	T	+	2	0	TMCO3	113249634	1.000000	0.71417	0.850000	0.33497	0.174000	0.22865	4.570000	0.60872	1.034000	0.39945	-0.365000	0.07479	ACG		0.577	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905	
DYNC1H1	1778	broad.mit.edu	37	14	102483189	102483189	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr14:102483189C>T	ENST00000360184.4	+	38	7865	c.7701C>T	c.(7699-7701)gtC>gtT	p.V2567V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2567	AAA 3. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.V2567V(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CCCCTGATGTCGTCGTGCCAA	0.607																																					p.V2567V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C7701T	14						.						50.0	44.0	46.0					14																	102483189		2203	4300	6503	101552942	SO:0001819	synonymous_variant	1778	exon38			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.7701C>T	14.37:g.102483189C>T			101552942	NM_001376	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	CCDS9966.1																																																																																				0.607	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376	
PNP	4860	broad.mit.edu	37	14	20943370	20943370	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr14:20943370C>T	ENST00000361505.5	+	5	757	c.611C>T	c.(610-612)gCa>gTa	p.A204V	RP11-203M5.8_ENST00000554678.1_lincRNA	NM_000270.3	NP_000261.2	P01298	PAHO_HUMAN	purine nucleoside phosphorylase	0					digestion (GO:0007586)|protein secretion (GO:0009306)	extracellular region (GO:0005576)	hormone activity (GO:0005179)|receptor binding (GO:0005102)	p.A204V(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10						GAGACTGTGGCAGAATGTCGT	0.552																																					p.A204V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C611T	14						.						85.0	81.0	83.0					14																	20943370		2203	4300	6503	20013210	SO:0001583	missense	4860	exon5				CCDS9552.1	14q11.2	2014-09-17	2009-12-02	2009-12-02	ENSG00000198805	ENSG00000198805	2.4.2.1		7892	protein-coding gene	gene with protein product		164050	"""nucleoside phosphorylase"""	NP		6087295	Standard	NM_000270		Approved	PUNP	uc001vxo.4	P00491	OTTHUMG00000029546	ENST00000361505.5:c.611C>T	14.37:g.20943370C>T	ENSP00000354532:p.Ala204Val		20013210	NM_000270		Missense_Mutation	SNP	ENST00000361505.5	37	CCDS9552.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409641	0.83340	.	.	ENSG00000198805	ENST00000361505;ENST00000554469	D	0.90504	-2.68	5.91	5.91	0.95273	Nucleoside phosphorylase domain (1);	0.000000	0.85682	D	0.000000	D	0.91727	0.7384	M	0.84156	2.68	0.80722	D	1	P	0.36959	0.575	B	0.35114	0.196	D	0.92023	0.5627	10	0.72032	D	0.01	-6.5876	19.07	0.93130	0.0:1.0:0.0:0.0	.	204	P00491	PNPH_HUMAN	V	204;136	ENSP00000354532:A204V	ENSP00000354532:A204V	A	+	2	0	PNP	20013210	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	7.294000	0.78760	2.793000	0.96121	0.655000	0.94253	GCA		0.552	PNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073646.2	NM_000270.2	
OR10G3	26533	broad.mit.edu	37	14	22038126	22038126	+	Silent	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr14:22038126G>A	ENST00000303532.1	-	1	749	c.750C>T	c.(748-750)acC>acT	p.T250T		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	250						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T250T(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		CATAGTACACGGTGACCACGG	0.572																																					p.T250T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C750T	14						.						81.0	86.0	85.0					14																	22038126		2203	4300	6503	21107966	SO:0001819	synonymous_variant	26533	exon1				CCDS32046.1	14q11.2	2013-09-24			ENSG00000169208	ENSG00000169208		"""GPCR / Class A : Olfactory receptors"""	8171	protein-coding gene	gene with protein product						8188290	Standard	NM_001005465		Approved		uc010tmb.2	Q8NGC4	OTTHUMG00000168886	ENST00000303532.1:c.750C>T	14.37:g.22038126G>A			21107966	NM_001005465	Q6IET7|Q96R77	Silent	SNP	ENST00000303532.1	37	CCDS32046.1																																																																																				0.572	OR10G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401521.1		
CEBPE	1053	broad.mit.edu	37	14	23586847	23586847	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr14:23586847G>A	ENST00000206513.5	-	2	1219	c.695C>T	c.(694-696)aCg>aTg	p.T232M		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	232	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to lipopolysaccharide (GO:0071222)|cytokine biosynthetic process (GO:0042089)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|macrophage differentiation (GO:0030225)|phagocytosis (GO:0006909)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.T232M(1)		large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		CTTCTGCTGCGTCTCCAGAAT	0.622																																					p.T232M	NSCLC(63;1230 1818 14565 22565)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C695T	14						.						83.0	70.0	74.0					14																	23586847		2203	4300	6503	22656687	SO:0001583	missense	1053	exon2				CCDS9589.1	14q11.2	2014-09-17			ENSG00000092067	ENSG00000092067		"""basic leucine zipper proteins"""	1836	protein-coding gene	gene with protein product		600749				8661101	Standard	NM_001805		Approved	CRP1	uc001wiv.2	Q15744	OTTHUMG00000028719	ENST00000206513.5:c.695C>T	14.37:g.23586847G>A	ENSP00000206513:p.Thr232Met		22656687	NM_001805	Q15745|Q8IYI2|Q99803	Missense_Mutation	SNP	ENST00000206513.5	37	CCDS9589.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.484713	0.84854	.	.	ENSG00000092067	ENST00000206513	T	0.45668	0.89	5.34	5.34	0.76211	Basic-leucine zipper (bZIP) transcription factor (2);Basic leucine zipper (1);	0.000000	0.85682	D	0.000000	T	0.54062	0.1835	L	0.31420	0.93	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.52931	-0.8509	10	0.44086	T	0.13	-19.492	17.8151	0.88630	0.0:0.0:1.0:0.0	.	232	Q15744	CEBPE_HUMAN	M	232	ENSP00000206513:T232M	ENSP00000206513:T232M	T	-	2	0	CEBPE	22656687	1.000000	0.71417	0.965000	0.40720	0.895000	0.52256	6.467000	0.73547	2.504000	0.84457	0.655000	0.94253	ACG		0.622	CEBPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071716.2	NM_001805	
MYH7	4625	broad.mit.edu	37	14	23884930	23884930	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr14:23884930G>A	ENST00000355349.3	-	35	5227	c.5065C>T	c.(5065-5067)Cgt>Tgt	p.R1689C	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1689					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.R1689C(2)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ACCACGGCACGCAACTCCTCC	0.627																																					p.R1689C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C5065T	14						.						75.0	66.0	69.0					14																	23884930		2203	4300	6503	22954770	SO:0001583	missense	4625	exon35			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.5065C>T	14.37:g.23884930G>A	ENSP00000347507:p.Arg1689Cys		22954770	NM_000257	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909553	0.72868	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.83250	-1.7	5.31	4.4	0.53042	Myosin tail (1);	.	.	.	.	D	0.94019	0.8084	H	0.97186	3.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95988	0.8983	9	0.87932	D	0	.	15.3427	0.74311	0.0:0.0:0.8594:0.1406	.	1689	P12883	MYH7_HUMAN	C	1689;1694	ENSP00000347507:R1689C	ENSP00000347507:R1689C	R	-	1	0	MYH7	22954770	0.998000	0.40836	0.998000	0.56505	0.992000	0.81027	2.975000	0.49281	1.435000	0.47434	0.561000	0.74099	CGT		0.627	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257	
KHNYN	23351	broad.mit.edu	37	14	24901806	24901806	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr14:24901806G>A	ENST00000251343.5	+	3	1478	c.1339G>A	c.(1339-1341)Gtg>Atg	p.V447M	CBLN3_ENST00000555436.1_5'Flank|KHNYN_ENST00000556842.1_Missense_Mutation_p.V447M|KHNYN_ENST00000554268.1_5'Flank|KHNYN_ENST00000553935.1_Missense_Mutation_p.V447M			O15037	KHNYN_HUMAN	KH and NYN domain containing	447							RNA binding (GO:0003723)	p.V447M(1)		kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						CGGCAGCAACGTGGCCATGGT	0.602											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.V447M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1339A	14						.						48.0	46.0	47.0					14																	24901806		2203	4299	6502	23971646	SO:0001583	missense	23351	exon3			AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"""KIAA0323"""	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.1339G>A	14.37:g.24901806G>A	ENSP00000251343:p.Val447Met	774	23971646	NM_015299	Q86TZ6|Q8IUQ2|Q96BA9	Missense_Mutation	SNP	ENST00000251343.5	37	CCDS32058.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.583924	0.65992	.	.	ENSG00000100441	ENST00000251343;ENST00000556842;ENST00000553935	T;T;T	0.70749	-0.51;-0.51;-0.51	5.33	4.23	0.50019	Ribonuclease Zc3h12a-like (1);	0.066024	0.64402	D	0.000015	D	0.86356	0.5913	M	0.92784	3.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.88881	0.3339	10	0.87932	D	0	.	12.1427	0.54007	0.0989:0.0:0.9011:0.0	.	488;447	D3DS77;O15037	.;KHNYN_HUMAN	M	447	ENSP00000251343:V447M;ENSP00000451106:V447M;ENSP00000450799:V447M	ENSP00000251343:V447M	V	+	1	0	KHNYN	23971646	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.110000	0.57831	2.481000	0.83766	0.462000	0.41574	GTG		0.602	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1		
PRKD1	5587	broad.mit.edu	37	14	30108046	30108046	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr14:30108046C>G	ENST00000331968.5	-	5	990	c.761G>C	c.(760-762)gGa>gCa	p.G254A	PRKD1_ENST00000415220.2_Missense_Mutation_p.G262A|PRKD1_ENST00000551644.1_5'UTR	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	254					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.G254A(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)		AATTGGTCGTCCAATGTATGA	0.418																																					p.G254A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G761C	14						.						99.0	98.0	98.0					14																	30108046		2203	4300	6503	29177797	SO:0001583	missense	5587	exon5				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.761G>C	14.37:g.30108046C>G	ENSP00000333568:p.Gly254Ala		29177797	NM_002742	A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057464	0.76074	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	T;T	0.69040	-0.31;-0.37	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.72653	0.3487	M	0.73962	2.25	0.80722	D	1	B	0.28258	0.205	B	0.34242	0.178	T	0.73297	-0.4027	10	0.87932	D	0	-23.0518	19.6531	0.95825	0.0:1.0:0.0:0.0	.	254	Q15139	KPCD1_HUMAN	A	254;262	ENSP00000333568:G254A;ENSP00000390535:G262A	ENSP00000333568:G254A	G	-	2	0	PRKD1	29177797	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.776000	0.85560	2.715000	0.92844	0.650000	0.86243	GGA		0.418	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742	
ARHGAP5	394	broad.mit.edu	37	14	32560563	32560563	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr14:32560563C>T	ENST00000345122.3	+	2	1003	c.688C>T	c.(688-690)Cga>Tga	p.R230*	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Nonsense_Mutation_p.R230*|ARHGAP5_ENST00000539826.2_Nonsense_Mutation_p.R230*|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Nonsense_Mutation_p.R230*	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	230					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.R230*(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AACATCAGCACGATTTAATGT	0.348																																					p.R230X	NSCLC(9;77 350 3443 29227 41353)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C688T	14						.						91.0	97.0	95.0					14																	32560563		2202	4300	6502	31630314	SO:0001587	stop_gained	394	exon2			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.688C>T	14.37:g.32560563C>T	ENSP00000371897:p.Arg230*		31630314	NM_001030055	A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Nonsense_Mutation	SNP	ENST00000345122.3	37	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	C	32	5.189990	0.94923	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	.	.	.	5.78	4.84	0.62591	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1227	0.65201	0.2214:0.7786:0.0:0.0	.	.	.	.	X	230	.	ENSP00000371897:R230X	R	+	1	2	ARHGAP5	31630314	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.232000	0.51302	2.717000	0.92951	0.655000	0.94253	CGA		0.348	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055	
AKAP6	9472	broad.mit.edu	37	14	33293451	33293451	+	Silent	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr14:33293451G>T	ENST00000280979.4	+	13	6602	c.6432G>T	c.(6430-6432)tcG>tcT	p.S2144S	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2144					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.S2144S(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CCACTGACTCGGGCTTAGATG	0.463																																					p.S2144S	Melanoma(49;821 1200 7288 13647 42351)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G6432T	14						.						95.0	90.0	92.0					14																	33293451		2203	4300	6503	32363202	SO:0001819	synonymous_variant	9472	exon13			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.6432G>T	14.37:g.33293451G>T			32363202	NM_004274	A7E242|A7E2D4|O15028	Silent	SNP	ENST00000280979.4	37	CCDS9644.1																																																																																				0.463	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274	
RALGAPA1	253959	broad.mit.edu	37	14	36123595	36123595	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr14:36123595T>G	ENST00000389698.3	-	29	4457	c.4067A>C	c.(4066-4068)gAt>gCt	p.D1356A	RALGAPA1_ENST00000258840.6_Missense_Mutation_p.D1403A|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.D1356A|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.D1369A	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1356	Minimal domain that binds to TCF3/E12. {ECO:0000250}.				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.D1356A(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						CAAGGGAGAATCAGGCTGGTA	0.289																																					p.D1356A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4067C	14						.						41.0	42.0	42.0					14																	36123595		2203	4295	6498	35193346	SO:0001583	missense	253959	exon29			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.4067A>C	14.37:g.36123595T>G	ENSP00000374348:p.Asp1356Ala		35193346	NM_194301	A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	T	13.97	2.395036	0.42512	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32	5.93	5.93	0.95920	.	0.265483	0.41294	D	0.000911	T	0.52419	0.1733	L	0.29908	0.895	0.35723	D	0.817317	B;B;P;B	0.38395	0.239;0.001;0.629;0.049	B;B;B;B	0.34779	0.189;0.007;0.173;0.027	T	0.58842	-0.7565	10	0.10636	T	0.68	-5.3209	16.3786	0.83431	0.0:0.0:0.0:1.0	.	1403;1369;1356;1356	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	A	1356;1356;1356;1403;1369;1403	ENSP00000374348:D1356A;ENSP00000302647:D1356A;ENSP00000258840:D1403A;ENSP00000371803:D1369A;ENSP00000451877:D1403A	ENSP00000258840:D1403A	D	-	2	0	RALGAPA1	35193346	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.901000	0.63259	2.269000	0.75478	0.454000	0.30748	GAT		0.289	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022	
FANCM	57697	broad.mit.edu	37	14	45623243	45623243	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr14:45623243G>A	ENST00000267430.5	+	6	1256	c.1171G>A	c.(1171-1173)Gat>Aat	p.D391N	FANCM_ENST00000556036.1_Missense_Mutation_p.D391N|FANCM_ENST00000542564.2_Missense_Mutation_p.D365N	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	391					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)	p.D391N(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TGGAATTATGGATGGAACTAA	0.313								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.D391N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1171A	14						.						93.0	95.0	94.0					14																	45623243		2203	4299	6502	44692993	SO:0001583	missense	57697	exon6	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.1171G>A	14.37:g.45623243G>A	ENSP00000267430:p.Asp391Asn		44692993	NM_020937	B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.973021	0.53614	.	.	ENSG00000187790	ENST00000556036;ENST00000267430;ENST00000542564	T;T;T	0.54675	0.56;0.56;0.56	5.18	4.28	0.50868	.	0.095899	0.64402	N	0.000001	T	0.54303	0.1850	M	0.73598	2.24	0.51012	D	0.999902	P;B;B	0.38250	0.624;0.242;0.24	B;B;B	0.37550	0.253;0.118;0.077	T	0.57568	-0.7789	10	0.41790	T	0.15	.	14.7747	0.69724	0.0:0.0:0.8543:0.1456	.	365;391;391	B2RTQ9;Q8IYD8;Q8IYD8-2	.;FANCM_HUMAN;.	N	391;391;365	ENSP00000450596:D391N;ENSP00000267430:D391N;ENSP00000442493:D365N	ENSP00000267430:D391N	D	+	1	0	FANCM	44692993	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.684000	0.74538	1.167000	0.42706	0.467000	0.42956	GAT		0.313	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128	
TMX1	81542	broad.mit.edu	37	14	51710678	51710678	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr14:51710678C>T	ENST00000457354.2	+	2	382	c.257C>T	c.(256-258)aCa>aTa	p.T86I	SNORA70_ENST00000364506.1_RNA	NM_030755.4	NP_110382.3	Q9H3N1	TMX1_HUMAN	thioredoxin-related transmembrane protein 1	86	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	disulfide oxidoreductase activity (GO:0015036)|protein disulfide isomerase activity (GO:0003756)	p.T86I(1)		endometrium(2)|large_intestine(2)|urinary_tract(1)	5						GTAGATGTCACAGAGCAGCCA	0.403																																					p.T86I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C257T	14						.						141.0	135.0	137.0					14																	51710678		1877	4105	5982	50780428	SO:0001583	missense	81542	exon2			AB048246	CCDS41953.1	14q22.1	2011-10-19	2009-02-23	2009-02-23				"""Protein disulfide isomerases"""	15487	protein-coding gene	gene with protein product	"""thioredoxin-related transmembrane protein"", ""protein disulfide isomerase family A, member 11"""	610527	"""thioredoxin domain-containing"", ""thioredoxin domain containing"", ""thioredoxin domain containing 1"""	TXNDC, TXNDC1		11152479	Standard	NM_030755		Approved	TMX, PDIA11	uc001wza.4	Q9H3N1		ENST00000457354.2:c.257C>T	14.37:g.51710678C>T	ENSP00000393316:p.Thr86Ile		50780428	NM_030755	B2R7A4|Q8N487|Q8NBN5|Q9Y4T6	Missense_Mutation	SNP	ENST00000457354.2	37	CCDS41953.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514774	0.85389	.	.	ENSG00000139921	ENST00000457354	T	0.44881	0.91	5.87	5.87	0.94306	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.71567	0.3355	M	0.90145	3.09	0.80722	D	1	D;D	0.76494	0.999;0.967	D;D	0.70016	0.967;0.919	T	0.76138	-0.3069	10	0.72032	D	0.01	-23.4446	18.0718	0.89410	0.0:1.0:0.0:0.0	.	86;86	B7Z7R5;Q9H3N1	.;TMX1_HUMAN	I	86	ENSP00000393316:T86I	ENSP00000393316:T86I	T	+	2	0	TMX1	50780428	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.969000	0.76092	2.941000	0.99782	0.655000	0.94253	ACA		0.403	TMX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411206.1	NM_030755	
SYT16	83851	broad.mit.edu	37	14	62550997	62550997	+	Silent	SNP	G	G	A	rs200581957		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr14:62550997G>A	ENST00000430451.2	+	5	1715	c.1518G>A	c.(1516-1518)gcG>gcA	p.A506A		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	506					exocytosis (GO:0006887)			p.A486A(2)		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)		ATGGAGGGGCGCCAGAGCTGT	0.552													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17519	0.0		0.0	False		,,,				2504	0.0				p.A506A												.	.	2	Substitution - coding silent(2)	upper_aerodigestive_tract(1)|large_intestine(1)	c.G1518A	14						.	G		1,3997		0,1,1998	93.0	92.0	92.0		1518	1.6	1.0	14		92	0,8318		0,0,4159	no	coding-synonymous	SYT16	NM_031914.2		0,1,6157	AA,AG,GG		0.0,0.025,0.0081		506/646	62550997	1,12315	1999	4159	6158	61620750	SO:0001819	synonymous_variant	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.1518G>A	14.37:g.62550997G>A			61620750	NM_031914	B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Silent	SNP	ENST00000430451.2	37	CCDS45121.1																																																																																				0.552	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914	
HSPA2	3306	broad.mit.edu	37	14	65007975	65007975	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr14:65007975delG	ENST00000394709.1	+	2	484	c.408delG	c.(406-408)ctgfs	p.L136fs	HSPA2_ENST00000554883.1_Intron|HSPA2_ENST00000247207.6_Frame_Shift_Del_p.L136fs|RP11-973N13.4_ENST00000554918.1_RNA			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	136					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)	p.G138fs*8(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		AAGCCTACCTGGGGGGCAAGG	0.587																																					p.L136fs	Pancreas(136;1211 1835 24894 31984 38227)											.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.408delG	14						.						45.0	45.0	45.0					14																	65007975		2203	4300	6503	64077728	SO:0001589	frameshift_variant	3306	exon1			L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"""Heat shock proteins / HSP70"""	5235	protein-coding gene	gene with protein product		140560	"""heat shock 70kD protein 2"""				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.408delG	14.37:g.65007975delG	ENSP00000378199:p.Leu136fs		64077728	NM_021979	Q15508|Q53XM3|Q9UE78	Frame_Shift_Del	DEL	ENST00000394709.1	37	CCDS9766.1																																																																																				0.587	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280651.1		
SPTB	6710	broad.mit.edu	37	14	65259863	65259863	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr14:65259863G>A	ENST00000389721.5	-	13	2550	c.2518C>T	c.(2518-2520)Cgt>Tgt	p.R840C	SPTB_ENST00000556626.1_Missense_Mutation_p.R840C|SPTB_ENST00000389720.3_Missense_Mutation_p.R840C|SPTB_ENST00000389722.3_Missense_Mutation_p.R840C|SPTB_ENST00000542895.1_Missense_Mutation_p.R840C	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	840					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.R840C(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTCTGCTGACGCAGGTCCGCC	0.637																																					p.R840C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2518T	14						.						49.0	45.0	47.0					14																	65259863		2203	4300	6503	64329616	SO:0001583	missense	6710	exon13				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.2518C>T	14.37:g.65259863G>A	ENSP00000374371:p.Arg840Cys		64329616	NM_001024858	Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.105459	0.56291	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02	5.23	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.80565	0.4647	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.83910	0.0295	10	0.87932	D	0	.	14.0994	0.65044	0.0:0.0:0.8481:0.1519	.	840;844	P11277;Q59FP5	SPTB1_HUMAN;.	C	844;840;840;840;840;840	ENSP00000374372:R840C;ENSP00000451752:R840C;ENSP00000374371:R840C;ENSP00000443882:R840C;ENSP00000374370:R840C	ENSP00000374370:R840C	R	-	1	0	SPTB	64329616	1.000000	0.71417	0.975000	0.42487	0.775000	0.43874	3.020000	0.49643	1.170000	0.42753	0.555000	0.69702	CGT		0.637	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1		
SLC39A9	55334	broad.mit.edu	37	14	69866161	69866161	+	Silent	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr14:69866161C>A	ENST00000336643.5	+	1	753	c.75C>A	c.(73-75)ccC>ccA	p.P25P	ERH_ENST00000555373.1_5'Flank|ERH_ENST00000557016.1_5'Flank|SLC39A9_ENST00000555245.1_Intron|SLC39A9_ENST00000557046.1_Silent_p.P25P|SLC39A9_ENST00000556605.1_Silent_p.P25P|ERH_ENST00000216520.6_5'Flank|SLC39A9_ENST00000031146.4_Silent_p.P25P	NM_018375.4	NP_060845.2	Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	25					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.P25P(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		GAATCATTCCCTTGGCTGTTA	0.453																																					p.P25P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C75A	14						.						203.0	183.0	190.0					14																	69866161		2203	4300	6503	68935914	SO:0001819	synonymous_variant	55334	exon1				CCDS9795.1, CCDS58327.1, CCDS58328.1	14q24.1	2013-07-17	2013-07-17			ENSG00000029364		"""Solute carriers"""	20182	protein-coding gene	gene with protein product							Standard	NM_018375		Approved	FLJ11274	uc001xle.3	Q9NUM3		ENST00000336643.5:c.75C>A	14.37:g.69866161C>A			68935914	NM_018375	G3V5J8|Q53HN3|Q5MJQ0|Q6P2Q1|Q86WY2	Silent	SNP	ENST00000336643.5	37	CCDS9795.1																																																																																				0.453	SLC39A9-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412446.1	NM_018375	
SLC8A3	6547	broad.mit.edu	37	14	70635088	70635088	+	Silent	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr14:70635088G>A	ENST00000381269.2	-	2	805	c.52C>T	c.(52-54)Ctg>Ttg	p.L18L	SLC8A3_ENST00000528359.1_Silent_p.L18L|SLC8A3_ENST00000357887.3_Silent_p.L18L|SLC8A3_ENST00000356921.2_Silent_p.L18L|SLC8A3_ENST00000534137.1_Silent_p.L18L	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	18					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)	p.L18L(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AAGGTAACCAGCCCAAAATGG	0.552																																					p.L18L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C52T	14						.						65.0	53.0	58.0					14																	70635088		2203	4300	6503	69704841	SO:0001819	synonymous_variant	6547	exon2			AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.52C>T	14.37:g.70635088G>A			69704841	NM_033262	Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Silent	SNP	ENST00000381269.2	37	CCDS35498.1																																																																																				0.552	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1		
MLH3	27030	broad.mit.edu	37	14	75485655	75485655	+	Silent	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr14:75485655G>A	ENST00000556740.1	-	11	4154	c.4119C>T	c.(4117-4119)agC>agT	p.S1373S	MLH3_ENST00000380968.2_Silent_p.S311S|RNU6-689P_ENST00000384197.1_RNA|MLH3_ENST00000355774.2_Silent_p.S1373S|MLH3_ENST00000238662.7_Silent_p.S1349S|MLH3_ENST00000556257.1_Silent_p.S1195S			Q9UHC1	MLH3_HUMAN	mutL homolog 3	1373					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)	p.S1349S(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TTTCCTGTAAGCTCAGGCCAT	0.473								Mismatch excision repair (MMR)																													p.S1373S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4119T	14						.						80.0	71.0	74.0					14																	75485655		2203	4300	6503	74555408	SO:0001819	synonymous_variant	27030	exon12			AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.4119C>T	14.37:g.75485655G>A			74555408	NM_001040108	P49751|Q56DK9|Q9P292|Q9UHC0	Silent	SNP	ENST00000556740.1	37	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	G	3.396	-0.123303	0.06795	.	.	ENSG00000119684	ENST00000553713	.	.	.	5.7	4.79	0.61399	.	.	.	.	.	T	0.57007	0.2024	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55315	-0.8160	4	.	.	.	-11.7871	7.1971	0.25860	0.2861:0.0:0.7139:0.0	.	.	.	.	V	397	.	.	A	-	2	0	MLH3	74555408	1.000000	0.71417	0.887000	0.34795	0.422000	0.31414	3.791000	0.55469	1.374000	0.46228	0.655000	0.94253	GCT		0.473	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381	
SNW1	22938	broad.mit.edu	37	14	78205175	78205175	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr14:78205175G>A	ENST00000261531.7	-	5	541	c.479C>T	c.(478-480)gCc>gTc	p.A160V	SNW1_ENST00000554775.1_5'UTR|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000555761.1_Missense_Mutation_p.A160V	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	160					cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|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 by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)	p.A160V(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CATGGCTGCGGCGACCTTCTG	0.408																																					p.A160V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C479T	14						.						81.0	83.0	82.0					14																	78205175		2203	4300	6503	77274928	SO:0001583	missense	22938	exon5			AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"""SKI interacting protein"""	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.479C>T	14.37:g.78205175G>A	ENSP00000261531:p.Ala160Val		77274928	NM_012245	A8K8A9|Q13483|Q32N03|Q5D0D6	Missense_Mutation	SNP	ENST00000261531.7	37	CCDS9867.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177886	0.78564	.	.	ENSG00000100603	ENST00000261531;ENST00000555761;ENST00000416259	.	.	.	5.81	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.73377	0.3579	M	0.77712	2.385	0.80722	D	1	B;B	0.26935	0.164;0.099	B;B	0.37888	0.26;0.06	T	0.73858	-0.3850	9	0.52906	T	0.07	.	16.3383	0.83074	0.0:0.0:0.8675:0.1325	.	160;160	G3V3A4;Q13573	.;SNW1_HUMAN	V	160	.	ENSP00000261531:A160V	A	-	2	0	SNW1	77274928	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	9.420000	0.97426	2.758000	0.94735	0.460000	0.39030	GCC		0.408	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413912.1	NM_012245	
NRXN3	9369	broad.mit.edu	37	14	79181439	79181439	+	Silent	SNP	C	C	T	rs190800652		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr14:79181439C>T	ENST00000554719.1	+	5	1373	c.882C>T	c.(880-882)tgC>tgT	p.C294C	NRXN3_ENST00000335750.5_Silent_p.C294C	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)	p.C294C(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GCTTCATCTGCGACTGCACCG	0.572													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17435	0.0		0.0	False		,,,				2504	0.0				p.C294C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C882T	14						.						57.0	54.0	55.0					14																	79181439		2203	4300	6503	78251192	SO:0001819	synonymous_variant	9369	exon5			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.882C>T	14.37:g.79181439C>T			78251192	NM_004796	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Silent	SNP	ENST00000554719.1	37	CCDS9870.1																																																																																				0.572	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250	
FLRT2	23768	broad.mit.edu	37	14	86088522	86088522	+	Missense_Mutation	SNP	G	G	A	rs140606612		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr14:86088522G>A	ENST00000330753.4	+	2	1431	c.664G>A	c.(664-666)Gcc>Acc	p.A222T	FLRT2_ENST00000554746.1_Missense_Mutation_p.A222T	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	222					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.A222T(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)		CAAGGGTATCGCCGAGGGCAC	0.512																																					p.A222T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G664A	14						.	G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	103.0	104.0	104.0		664	4.6	0.4	14	dbSNP_134	104	0,8600		0,0,4300	no	missense	FLRT2	NM_013231.4	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	222/661	86088522	1,13005	2203	4300	6503	85158275	SO:0001583	missense	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.664G>A	14.37:g.86088522G>A	ENSP00000332879:p.Ala222Thr		85158275	NM_013231	A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.434663	0.25813	2.27E-4	0.0	ENSG00000185070	ENST00000330753;ENST00000554746	T;T	0.57107	0.42;0.42	5.48	4.59	0.56863	.	0.169542	0.51477	N	0.000082	T	0.33731	0.0873	N	0.11756	0.17	0.48288	D	0.999624	B	0.17038	0.02	B	0.16722	0.016	T	0.11842	-1.0571	10	0.39692	T	0.17	-12.5619	10.8307	0.46659	0.1453:0.0:0.8547:0.0	.	222	O43155	FLRT2_HUMAN	T	222	ENSP00000332879:A222T;ENSP00000451050:A222T	ENSP00000332879:A222T	A	+	1	0	FLRT2	85158275	1.000000	0.71417	0.416000	0.26546	0.475000	0.33008	4.803000	0.62546	1.442000	0.47568	0.650000	0.86243	GCC		0.512	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1		
EML5	161436	broad.mit.edu	37	14	89206860	89206860	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr14:89206860C>T	ENST00000380664.5	-	5	581	c.582G>A	c.(580-582)acG>acA	p.T194T	EML5_ENST00000554922.1_Silent_p.T194T|EML5_ENST00000352093.5_Silent_p.T194T			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	194						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)	p.T194T(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GAAGGTCACCCGTCTTACCAA	0.383																																					p.T194T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G582A	14						.						159.0	149.0	152.0					14																	89206860		1879	4119	5998	88276613	SO:0001819	synonymous_variant	161436	exon5			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.582G>A	14.37:g.89206860C>T			88276613	NM_183387	B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Silent	SNP	ENST00000380664.5	37	CCDS45148.1																																																																																				0.383	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1		
KCNK13	56659	broad.mit.edu	37	14	90650961	90650961	+	Missense_Mutation	SNP	A	A	G	rs114305114		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr14:90650961A>G	ENST00000282146.4	+	2	1282	c.841A>G	c.(841-843)Atc>Gtc	p.I281V		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	281					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.I281V(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TGTCATCTCTATCCTCATCAA	0.522													A|||	1	0.000199681	0.0	0.0	5008	,	,		21632	0.0		0.001	False		,,,				2504	0.0				p.I281V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A841G	14						.						91.0	91.0	91.0					14																	90650961		2203	4300	6503	89720714	SO:0001583	missense	56659	exon2			AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.841A>G	14.37:g.90650961A>G	ENSP00000282146:p.Ile281Val		89720714	NM_022054	B5TJL8|Q96E79	Missense_Mutation	SNP	ENST00000282146.4	37	CCDS9889.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	22.7	4.319782	0.81469	.	.	ENSG00000152315	ENST00000282146	T	0.44881	0.91	5.42	5.42	0.78866	Ion transport 2 (1);	0.000000	0.39985	N	0.001211	T	0.52693	0.1750	L	0.45051	1.395	0.80722	D	1	D	0.55605	0.972	D	0.64687	0.928	T	0.42531	-0.9446	10	0.16420	T	0.52	.	15.448	0.75248	1.0:0.0:0.0:0.0	.	281	Q9HB14	KCNKD_HUMAN	V	281	ENSP00000282146:I281V	ENSP00000282146:I281V	I	+	1	0	KCNK13	89720714	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.315000	0.96313	2.050000	0.60909	0.533000	0.62120	ATC		0.522	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	NM_022054	
CCDC88C	440193	broad.mit.edu	37	14	91744331	91744331	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr14:91744331G>A	ENST00000389857.6	-	29	5079	c.4993C>T	c.(4993-4995)Ccc>Tcc	p.P1665S	CCDC88C_ENST00000331194.7_Missense_Mutation_p.P189S	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1665					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)	p.P1665S(1)|p.P189S(1)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TCACTGCTGGGGGAGGCCGAG	0.667																																					p.P1665S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4993T	14						.						11.0	14.0	13.0					14																	91744331		1974	4153	6127	90814084	SO:0001583	missense	440193	exon29				CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.4993C>T	14.37:g.91744331G>A	ENSP00000374507:p.Pro1665Ser		90814084	NM_001080414	Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.954868	0.92726	.	.	ENSG00000015133	ENST00000389857;ENST00000427583;ENST00000331194	T;D	0.82893	-0.3;-1.66	5.55	5.55	0.83447	.	0.000000	0.48286	U	0.000188	D	0.91040	0.7181	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	D	0.91539	0.5248	10	0.87932	D	0	-33.7466	19.4978	0.95081	0.0:0.0:1.0:0.0	.	1665;189;115	Q9P219;Q9P219-2;Q9P219-3	DAPLE_HUMAN;.;.	S	1665;189;189	ENSP00000374507:P1665S;ENSP00000330332:P189S	ENSP00000330332:P189S	P	-	1	0	CCDC88C	90814084	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.118000	0.94355	2.608000	0.88229	0.462000	0.41574	CCC		0.667	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353	
UNC79	57578	broad.mit.edu	37	14	94088551	94088551	+	Missense_Mutation	SNP	G	G	T	rs374708384		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr14:94088551G>T	ENST00000393151.2	+	30	4972	c.4972G>T	c.(4972-4974)Ggc>Tgc	p.G1658C	UNC79_ENST00000553484.1_Missense_Mutation_p.G1680C|UNC79_ENST00000555664.1_Missense_Mutation_p.G1658C|UNC79_ENST00000256339.4_Missense_Mutation_p.G1481C			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1658					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.G1481C(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						AGGCGATGACGGCCCCTCCGG	0.562																																					p.G1481C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4441T	14						.						92.0	99.0	96.0					14																	94088551		2203	4300	6503	93158304	SO:0001583	missense	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.4972G>T	14.37:g.94088551G>T	ENSP00000376858:p.Gly1658Cys		93158304	NM_020818	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	G	7.872	0.728378	0.15507	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.18810	2.2;2.19;2.2;2.2	5.62	3.79	0.43588	.	0.525769	0.21587	N	0.072157	T	0.21921	0.0528	N	0.19112	0.55	0.09310	N	0.999999	D	0.60575	0.988	P	0.54270	0.747	T	0.03587	-1.1022	10	0.72032	D	0.01	-9.9907	9.9732	0.41768	0.1549:0.0:0.8451:0.0	.	1680	C9JQL1	.	C	1481;1658;1680;1658;1680	ENSP00000256339:G1481C;ENSP00000450868:G1658C;ENSP00000451360:G1680C;ENSP00000376858:G1658C	ENSP00000256339:G1481C	G	+	1	0	KIAA1409	93158304	0.026000	0.19158	0.042000	0.18584	0.005000	0.04900	0.507000	0.22675	1.389000	0.46526	0.491000	0.48974	GGC		0.562	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395	
AK7	122481	broad.mit.edu	37	14	96875252	96875252	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr14:96875252T>C	ENST00000267584.4	+	4	516	c.472T>C	c.(472-474)Tgg>Cgg	p.W158R	AK7_ENST00000554313.1_3'UTR	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	158					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)	p.W158R(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GGTGATGACTTGGGCGCGCTC	0.473																																					p.W158R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T472C	14						.						91.0	88.0	89.0					14																	96875252		2203	4300	6503	95945005	SO:0001583	missense	122481	exon4			AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.472T>C	14.37:g.96875252T>C	ENSP00000267584:p.Trp158Arg		95945005	NM_152327	Q8IYP6	Missense_Mutation	SNP	ENST00000267584.4	37	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	T	14.04	2.417703	0.42918	.	.	ENSG00000140057	ENST00000267584	T	0.70399	-0.48	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.84656	0.5520	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87116	0.2188	10	0.87932	D	0	-11.7302	12.6862	0.56949	0.0:0.0:0.0:1.0	.	158	Q96M32	KAD7_HUMAN	R	158	ENSP00000267584:W158R	ENSP00000267584:W158R	W	+	1	0	AK7	95945005	1.000000	0.71417	0.938000	0.37757	0.030000	0.12068	5.101000	0.64566	2.049000	0.60858	0.533000	0.62120	TGG		0.473	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1		
AHNAK2	113146	broad.mit.edu	37	14	105421945	105421945	+	Missense_Mutation	SNP	G	G	A	rs200025024		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr14:105421945G>A	ENST00000333244.5	-	5	460	c.341C>T	c.(340-342)aCg>aTg	p.T114M	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	114	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.T114M(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGTCTTCAGCGTCACCTCTGT	0.602													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19951	0.0		0.0	False		,,,				2504	0.0				p.T114M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C341T	14						.						74.0	81.0	78.0					14																	105421945		2155	4250	6405	104492990	SO:0001583	missense	113146	exon5			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.341C>T	14.37:g.105421945G>A	ENSP00000353114:p.Thr114Met		104492990	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	11.36	1.614704	0.28712	.	.	ENSG00000185567	ENST00000333244	T	0.03065	4.06	4.72	2.9	0.33743	PDZ/DHR/GLGF (2);	0.163218	0.41294	U	0.000903	T	0.10035	0.0246	M	0.72118	2.19	0.23204	N	0.998123	D	0.65815	0.995	P	0.54100	0.742	T	0.05451	-1.0884	10	0.52906	T	0.07	.	9.6648	0.39977	0.1413:0.0:0.8587:0.0	.	114	Q8IVF2	AHNK2_HUMAN	M	114	ENSP00000353114:T114M	ENSP00000353114:T114M	T	-	2	0	AHNAK2	104492990	0.872000	0.30054	0.741000	0.31004	0.872000	0.50106	1.667000	0.37471	0.617000	0.30160	0.650000	0.86243	ACG		0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
CYFIP1	23191	broad.mit.edu	37	15	22955159	22955159	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr15:22955159T>C	ENST00000313077.7	+	15	1678	c.1553T>C	c.(1552-1554)gTg>gCg	p.V518A	CYFIP1_ENST00000560848.1_Missense_Mutation_p.V518A|CYFIP1_ENST00000435939.2_5'Flank	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1									p.V518A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		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;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		AGGAAGACCGTGTGTGACTGG	0.607																																					p.V518A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1553C	15						.						81.0	77.0	78.0					15																	22955159		2203	4300	6503	20506600	SO:0001583	missense	23191	exon15			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.1553T>C	15.37:g.22955159T>C	ENSP00000324549:p.Val518Ala		20506600	NM_014608		Missense_Mutation	SNP	ENST00000313077.7	37	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	T	18.31	3.595987	0.66332	.	.	ENSG00000068793	ENST00000313077;ENST00000412127	T	0.22539	1.95	5.1	5.1	0.69264	.	0.000000	0.56097	D	0.000025	T	0.16471	0.0396	L	0.28556	0.865	0.80722	D	1	B;B	0.28128	0.201;0.006	B;B	0.31442	0.13;0.004	T	0.04693	-1.0933	10	0.10111	T	0.7	-35.2389	14.9223	0.70847	0.0:0.0:0.0:1.0	.	546;518	E7EQ04;Q7L576	.;CYFP1_HUMAN	A	518;546	ENSP00000324549:V518A	ENSP00000324549:V518A	V	+	2	0	CYFIP1	20506600	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	6.017000	0.70805	1.922000	0.55676	0.459000	0.35465	GTG		0.607	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608	
ARHGAP11B	89839	broad.mit.edu	37	15	30919054	30919054	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr15:30919054C>T	ENST00000428041.2	+	1	176	c.31C>T	c.(31-33)Ctg>Ttg	p.L11L	RP11-932O9.7_ENST00000501830.2_RNA	NM_001039841.1	NP_001034930.1	Q3KRB8	RHGBB_HUMAN	Rho GTPase activating protein 11B	11					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.L11L(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		GAAGTTGGCCCTGTTGCAGCA	0.552																																					p.L11L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C31T	15						.						85.0	79.0	81.0					15																	30919054		2202	4300	6502	28706346	SO:0001819	synonymous_variant	89839	exon1			BC105788	CCDS32185.1	15q13.2	2011-07-13				ENSG00000187951		"""Rho GTPase activating proteins"""	15782	protein-coding gene	gene with protein product	"""GAP (1-8)"""		"""family with sequence similarity 7, member B1"""	FAM7B1		11829490	Standard	NM_001039841		Approved	B'-T	uc001zet.1	Q3KRB8		ENST00000428041.2:c.31C>T	15.37:g.30919054C>T			28706346	NM_001039841		Silent	SNP	ENST00000428041.2	37	CCDS32185.1																																																																																				0.552	ARHGAP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430729.1	NM_001039841	
MTMR10	54893	broad.mit.edu	37	15	31269147	31269147	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr15:31269147C>T	ENST00000435680.1	-	3	230	c.133G>A	c.(133-135)Gta>Ata	p.V45I	MTMR10_ENST00000563714.1_5'UTR|MTMR10_ENST00000314404.8_5'Flank|MTMR10_ENST00000425768.1_Missense_Mutation_p.V45I	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	45							phosphatase activity (GO:0016791)	p.V45I(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		ACTTCATTTACGACAATTTCT	0.358																																					p.V45I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G133A	15						.						96.0	92.0	93.0					15																	31269147		1832	4077	5909	29056439	SO:0001583	missense	54893	exon3			AK000320	CCDS45204.1	15q13.3	2011-06-09				ENSG00000166912		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	25999	protein-coding gene	gene with protein product						12495846	Standard	NM_017762		Approved	FLJ20313	uc001zfh.1	Q9NXD2		ENST00000435680.1:c.133G>A	15.37:g.31269147C>T	ENSP00000402537:p.Val45Ile		29056439	NM_017762	Q6P4Q6	Missense_Mutation	SNP	ENST00000435680.1	37	CCDS45204.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.560898	0.86335	.	.	ENSG00000166912	ENST00000435680;ENST00000425768	D;D	0.82526	-1.62;-1.62	5.47	5.47	0.80525	.	.	.	.	.	D	0.86163	0.5867	L	0.31664	0.95	0.58432	D	0.999995	D	0.76494	0.999	D	0.72982	0.979	D	0.83496	0.0072	9	0.25106	T	0.35	.	19.3324	0.94297	0.0:1.0:0.0:0.0	.	45	Q9NXD2	MTMRA_HUMAN	I	45	ENSP00000402537:V45I;ENSP00000412314:V45I	ENSP00000412314:V45I	V	-	1	0	MTMR10	29056439	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	7.412000	0.80091	2.571000	0.86741	0.655000	0.94253	GTA		0.358	MTMR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430747.1	NM_017762	
PGBD4	161779	broad.mit.edu	37	15	34395742	34395742	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr15:34395742C>T	ENST00000397766.2	+	1	1469	c.1010C>T	c.(1009-1011)cCc>cTc	p.P337L	EMC7_ENST00000532113.1_5'Flank|EMC7_ENST00000256545.4_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	337								p.P337L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		AATATATCTCCCATGCTTTTC	0.403																																					p.P337L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1010T	15						.						89.0	84.0	86.0					15																	34395742		2201	4298	6499	32183034	SO:0001583	missense	161779	exon1			AK057200	CCDS10033.1	15q13.1	2002-10-25			ENSG00000182405	ENSG00000182405			19401	protein-coding gene	gene with protein product							Standard	NM_152595		Approved	FLJ32638, FLJ37497	uc001zho.3	Q96DM1	OTTHUMG00000129370	ENST00000397766.2:c.1010C>T	15.37:g.34395742C>T	ENSP00000380872:p.Pro337Leu		32183034	NM_152595	A1L487|A8K0C6|Q8N9E8	Missense_Mutation	SNP	ENST00000397766.2	37	CCDS10033.1	.	.	.	.	.	.	.	.	.	.	c	14.30	2.495279	0.44352	.	.	ENSG00000182405	ENST00000397766	T	0.14391	2.51	0.837	0.837	0.18896	.	0.318671	0.23738	N	0.045050	T	0.10165	0.0249	L	0.39898	1.24	0.28756	N	0.901148	P	0.37370	0.592	B	0.41174	0.349	T	0.18241	-1.0343	10	0.09338	T	0.73	.	7.4736	0.27363	0.0:1.0:0.0:0.0	.	337	Q96DM1	PGBD4_HUMAN	L	337	ENSP00000380872:P337L	ENSP00000380872:P337L	P	+	2	0	PGBD4	32183034	0.847000	0.29606	0.275000	0.24674	0.980000	0.70556	0.731000	0.26058	0.735000	0.32537	0.306000	0.20318	CCC		0.403	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251522.1		
LTK	4058	broad.mit.edu	37	15	41797489	41797489	+	Silent	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr15:41797489A>G	ENST00000263800.6	-	15	1938	c.1842T>C	c.(1840-1842)ccT>ccC	p.P614P	LTK_ENST00000355166.5_Silent_p.P553P|LTK_ENST00000561619.1_Silent_p.P312P|LTK_ENST00000453182.2_Silent_p.P484P	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	614	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P614P(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GCATGACCAGAGGTGATGGCT	0.597										TSP Lung(18;0.14)																											p.P614P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1842C	15						.						46.0	45.0	45.0					15																	41797489		2203	4300	6503	39584781	SO:0001819	synonymous_variant	4058	exon15			D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"""leukocyte tyrosine kinase"""			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.1842T>C	15.37:g.41797489A>G			39584781	NM_002344	A6NNJ8|B4DL89|E9PFX4	Silent	SNP	ENST00000263800.6	37	CCDS10077.1																																																																																				0.597	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2		
ZNF106	64397	broad.mit.edu	37	15	42743576	42743576	+	Silent	SNP	G	G	A	rs150773032	byFrequency	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr15:42743576G>A	ENST00000263805.4	-	2	1151	c.825C>T	c.(823-825)caC>caT	p.H275H	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	275					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.H275H(1)									TATATCTGTCGTGACTGTATT	0.363													G|||	3	0.000599042	0.0023	0.0	5008	,	,		21671	0.0		0.0	False		,,,				2504	0.0				p.H275H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C825T	15						.	T		24,4382	30.8+/-60.4	0,24,2179	155.0	145.0	148.0		825	-0.9	1.0	15	dbSNP_134	148	0,8598		0,0,4299	no	coding-synonymous	ZFP106	NM_022473.1		0,24,6478	AA,AG,GG		0.0,0.5447,0.1846		275/1884	42743576	24,12980	2203	4299	6502	40530868	SO:0001819	synonymous_variant	64397	exon2			AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.825C>T	15.37:g.42743576G>A			40530868	NM_022473	B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Silent	SNP	ENST00000263805.4	37	CCDS32208.1																																																																																				0.363	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473	
TGM7	116179	broad.mit.edu	37	15	43571407	43571407	+	Missense_Mutation	SNP	G	G	A	rs145482913	byFrequency	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr15:43571407G>A	ENST00000452443.2	-	11	1751	c.1747C>T	c.(1747-1749)Cgc>Tgc	p.R583C		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	583					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.R583C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		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;9.14e-07)	L-Glutamine(DB00130)	CCAGACACGCGGATGAGCTTT	0.517													G|||	2	0.000399361	0.0008	0.0	5008	,	,		20349	0.0		0.001	False		,,,				2504	0.0				p.R583C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1747T	15						.	G	CYS/ARG	0,4404		0,0,2202	95.0	80.0	85.0		1747	4.5	1.0	15	dbSNP_134	85	1,8597	1.2+/-3.3	0,1,4298	yes	missense	TGM7	NM_052955.2	180	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	583/711	43571407	1,13001	2202	4299	6501	41358699	SO:0001583	missense	116179	exon11			AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"""Transglutaminases"""	30790	protein-coding gene	gene with protein product	"""transglutaminase Z"""	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.1747C>T	15.37:g.43571407G>A	ENSP00000389466:p.Arg583Cys		41358699	NM_052955		Missense_Mutation	SNP	ENST00000452443.2	37	CCDS32213.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	21.7	4.191479	0.78902	0.0	1.16E-4	ENSG00000159495	ENST00000452443	T	0.35236	1.32	5.42	4.51	0.55191	Transglutaminase, C-terminal (1);Immunoglobulin-like fold (1);	0.180300	0.49916	D	0.000139	T	0.47985	0.1475	M	0.72118	2.19	0.44254	D	0.997106	D	0.76494	0.999	P	0.53185	0.72	T	0.51012	-0.8759	10	0.59425	D	0.04	-2.9555	10.4075	0.44272	0.0898:0.0:0.9102:0.0	.	583	Q96PF1	TGM7_HUMAN	C	583	ENSP00000389466:R583C	ENSP00000389466:R583C	R	-	1	0	TGM7	41358699	1.000000	0.71417	0.981000	0.43875	0.936000	0.57629	4.049000	0.57397	1.292000	0.44672	0.655000	0.94253	CGC		0.517	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955	
SEMA6D	80031	broad.mit.edu	37	15	48052516	48052516	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr15:48052516C>T	ENST00000316364.5	+	3	564	c.125C>T	c.(124-126)cCg>cTg	p.P42L	SEMA6D_ENST00000558816.1_Missense_Mutation_p.P42L|SEMA6D_ENST00000558014.1_Missense_Mutation_p.P42L|SEMA6D_ENST00000389428.3_Missense_Mutation_p.P42L|SEMA6D_ENST00000358066.4_Missense_Mutation_p.P42L|SEMA6D_ENST00000389425.3_Missense_Mutation_p.P42L|SEMA6D_ENST00000389433.2_Missense_Mutation_p.P42L|SEMA6D_ENST00000389432.2_Missense_Mutation_p.P42L|SEMA6D_ENST00000355997.3_Missense_Mutation_p.P42L|SEMA6D_ENST00000537942.1_Missense_Mutation_p.P42L|SEMA6D_ENST00000536845.2_Missense_Mutation_p.P42L|SEMA6D_ENST00000354744.4_Missense_Mutation_p.P42L	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	42	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.P42L(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AGGCAATATCCGGTTTTTAGA	0.418																																					p.P42L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C125T	15						.						100.0	91.0	94.0					15																	48052516		2198	4297	6495	45839808	SO:0001583	missense	80031	exon3			AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.125C>T	15.37:g.48052516C>T	ENSP00000324857:p.Pro42Leu		45839808	NM_153619	A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.369794	0.82573	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	T;T;T;T;T;T;T;T;T;T	0.27104	2.27;2.04;2.04;2.08;2.27;2.27;2.27;2.26;2.22;1.69	5.76	5.76	0.90799	Semaphorin/CD100 antigen (2);	0.000000	0.85682	D	0.000000	T	0.57036	0.2026	M	0.80422	2.495	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;P;D;D;D	0.83275	0.993;0.889;0.993;0.996;0.948	T	0.59456	-0.7451	10	0.72032	D	0.01	.	19.9813	0.97326	0.0:1.0:0.0:0.0	.	42;42;42;42;42	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	L	42	ENSP00000442040:P42L;ENSP00000446152:P42L;ENSP00000324857:P42L;ENSP00000374084:P42L;ENSP00000374083:P42L;ENSP00000346786:P42L;ENSP00000350770:P42L;ENSP00000374079:P42L;ENSP00000348276:P42L;ENSP00000374076:P42L	ENSP00000324857:P42L	P	+	2	0	SEMA6D	45839808	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.726000	0.93360	0.655000	0.94253	CCG		0.418	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966	
MYEF2	50804	broad.mit.edu	37	15	48450243	48450243	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr15:48450243G>A	ENST00000324324.7	-	9	1211	c.932C>T	c.(931-933)tCt>tTt	p.S311F	MYEF2_ENST00000267836.6_Missense_Mutation_p.S311F|MYEF2_ENST00000557868.1_5'UTR	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	311					myotube differentiation (GO:0014902)|neuron differentiation (GO:0030182)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S311F(1)		endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		ATGAGGAACAGACTTGTCATC	0.343																																					p.S311F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C932T	15						.						151.0	142.0	145.0					15																	48450243		2198	4297	6495	46237535	SO:0001583	missense	50804	exon9			AB037762	CCDS32230.1, CCDS73722.1	15q15.1	2013-07-16				ENSG00000104177		"""RNA binding motif (RRM) containing"""	17940	protein-coding gene	gene with protein product						10718198, 2601707	Standard	XM_005254422		Approved	MEF-2, FLJ11213, KIAA1341, HsT18564	uc001zwi.4	Q9P2K5		ENST00000324324.7:c.932C>T	15.37:g.48450243G>A	ENSP00000316950:p.Ser311Phe		46237535	NM_016132	A7MCZ9|C9J921|C9K0J4|Q6NUM5|Q7L388|Q7Z4B7|Q9H922|Q9NUQ1	Missense_Mutation	SNP	ENST00000324324.7	37	CCDS32230.1	.	.	.	.	.	.	.	.	.	.	G	32	5.154687	0.94686	.	.	ENSG00000104177	ENST00000324324;ENST00000267836	T;T	0.36340	1.26;1.26	5.7	5.7	0.88788	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.59595	0.2205	M	0.67397	2.05	0.80722	D	1	D;D	0.63880	0.993;0.988	D;D	0.64042	0.921;0.921	T	0.60885	-0.7174	10	0.87932	D	0	-9.7501	19.8344	0.96650	0.0:0.0:1.0:0.0	.	311;311	Q9P2K5-2;Q9P2K5	.;MYEF2_HUMAN	F	311	ENSP00000316950:S311F;ENSP00000267836:S311F	ENSP00000267836:S311F	S	-	2	0	MYEF2	46237535	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.476000	0.97823	2.689000	0.91719	0.591000	0.81541	TCT		0.343	MYEF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416909.2	NM_016132	
MYEF2	50804	broad.mit.edu	37	15	48460907	48460907	+	Silent	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr15:48460907T>C	ENST00000324324.7	-	2	570	c.291A>G	c.(289-291)ccA>ccG	p.P97P	MYEF2_ENST00000267836.6_Silent_p.P97P	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	97					myotube differentiation (GO:0014902)|neuron differentiation (GO:0030182)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P97P(1)		endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TGTTACGATTTGGACCCTTCT	0.363																																					p.P97P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A291G	15						.						209.0	196.0	200.0					15																	48460907		2198	4297	6495	46248199	SO:0001819	synonymous_variant	50804	exon2			AB037762	CCDS32230.1, CCDS73722.1	15q15.1	2013-07-16				ENSG00000104177		"""RNA binding motif (RRM) containing"""	17940	protein-coding gene	gene with protein product						10718198, 2601707	Standard	XM_005254422		Approved	MEF-2, FLJ11213, KIAA1341, HsT18564	uc001zwi.4	Q9P2K5		ENST00000324324.7:c.291A>G	15.37:g.48460907T>C			46248199	NM_016132	A7MCZ9|C9J921|C9K0J4|Q6NUM5|Q7L388|Q7Z4B7|Q9H922|Q9NUQ1	Silent	SNP	ENST00000324324.7	37	CCDS32230.1																																																																																				0.363	MYEF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416909.2	NM_016132	
GABPB1	2553	broad.mit.edu	37	15	50596219	50596219	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr15:50596219G>A	ENST00000220429.8	-	3	388	c.220C>T	c.(220-222)Cca>Tca	p.P74S	GABPB1_ENST00000543881.1_5'UTR|GABPB1_ENST00000560825.1_Missense_Mutation_p.P74S|GABPB1_ENST00000429662.2_Missense_Mutation_p.P74S|GABPB1_ENST00000380877.3_Missense_Mutation_p.P74S|GABPB1_ENST00000359031.4_Missense_Mutation_p.P74S|GABPB1_ENST00000396464.3_Missense_Mutation_p.P74S			Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	74					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.P74S(1)		cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						ATATGTAATGGTGTTCGGTCC	0.453																																					p.P74S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C220T	15						.						206.0	162.0	177.0					15																	50596219		2196	4295	6491	48383511	SO:0001583	missense	2553	exon3			D13316	CCDS10135.1, CCDS10136.1, CCDS32239.1, CCDS45258.1	15q21.2	2013-01-10	2008-02-25	2008-02-25	ENSG00000104064	ENSG00000104064		"""Ankyrin repeat domain containing"""	4074	protein-coding gene	gene with protein product		600610	"""GA binding protein transcription factor, beta subunit 2"""	GABPB2		7958862	Standard	NM_016655		Approved	E4TF1-47, GABPB	uc001zyb.3	Q06547	OTTHUMG00000131642	ENST00000220429.8:c.220C>T	15.37:g.50596219G>A	ENSP00000220429:p.Pro74Ser		48383511	NM_002041	A8IE52|Q06545|Q12940|Q12941|Q12942|Q8IYD0	Missense_Mutation	SNP	ENST00000220429.8	37	CCDS32239.1	.	.	.	.	.	.	.	.	.	.	G	32	5.131776	0.94473	.	.	ENSG00000104064	ENST00000220429;ENST00000380877;ENST00000396464;ENST00000429662;ENST00000359031	T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32	5.45	5.45	0.79879	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.75004	0.3791	M	0.62723	1.935	0.80722	D	1	P;P;D;B;D	0.76494	0.943;0.913;0.999;0.421;0.999	P;P;D;B;D	0.76071	0.722;0.598;0.987;0.158;0.987	T	0.75199	-0.3402	10	0.56958	D	0.05	-11.6968	19.6374	0.95740	0.0:0.0:1.0:0.0	.	74;74;74;74;74	B7Z726;Q06547-3;Q06547-4;Q06547;Q06547-2	.;.;.;GABP1_HUMAN;.	S	74	ENSP00000220429:P74S;ENSP00000370259:P74S;ENSP00000379728:P74S;ENSP00000395771:P74S;ENSP00000351923:P74S	ENSP00000220429:P74S	P	-	1	0	GABPB1	48383511	1.000000	0.71417	0.905000	0.35620	0.986000	0.74619	9.837000	0.99465	2.711000	0.92665	0.563000	0.77884	CCA		0.453	GABPB1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000418294.1		
WDR72	256764	broad.mit.edu	37	15	53889403	53889403	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr15:53889403T>C	ENST00000396328.1	-	18	3260	c.3021A>G	c.(3019-3021)atA>atG	p.I1007M	WDR72_ENST00000557913.1_Missense_Mutation_p.I1004M|WDR72_ENST00000360509.5_Missense_Mutation_p.I1007M|WDR72_ENST00000559418.1_Missense_Mutation_p.I1017M	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	1007								p.I1007M(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TATTGACGGGTATCTTTCCCA	0.403																																					p.I1007M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3021G	15						.						247.0	219.0	229.0					15																	53889403		2194	4293	6487	51676695	SO:0001583	missense	256764	exon18			BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.3021A>G	15.37:g.53889403T>C	ENSP00000379619:p.Ile1007Met		51676695	NM_182758	Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	T	17.13	3.310937	0.60414	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.35421	1.31;1.31	5.89	-7.97	0.01139	.	0.862767	0.10427	N	0.675927	T	0.10423	0.0255	N	0.08118	0	0.09310	N	1	P	0.35600	0.511	B	0.28232	0.087	T	0.15492	-1.0435	10	0.48119	T	0.1	.	0.9697	0.01413	0.3232:0.1309:0.3091:0.2369	.	1007	Q3MJ13	WDR72_HUMAN	M	1007	ENSP00000379619:I1007M;ENSP00000353699:I1007M	ENSP00000353699:I1007M	I	-	3	3	WDR72	51676695	0.000000	0.05858	0.000000	0.03702	0.558000	0.35554	-0.817000	0.04472	-1.308000	0.02318	0.460000	0.39030	ATA		0.403	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758	
UNC13C	440279	broad.mit.edu	37	15	54586135	54586135	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr15:54586135G>T	ENST00000260323.11	+	10	3861	c.3861G>T	c.(3859-3861)tgG>tgT	p.W1287C	UNC13C_ENST00000537900.1_Missense_Mutation_p.W1285C|UNC13C_ENST00000545554.1_Missense_Mutation_p.W1287C	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1287	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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.W1287C(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)		TCAGAGTATGGGATGAAGATG	0.353																																					p.W1287C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3861T	15						.						147.0	149.0	148.0					15																	54586135		1930	4132	6062	52373427	SO:0001583	missense	440279	exon9			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.3861G>T	15.37:g.54586135G>T	ENSP00000260323:p.Trp1287Cys		52373427	NM_001080534	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332141	0.81801	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.73152	-0.72;-0.72;-0.72	5.91	5.91	0.95273	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.063267	0.64402	D	0.000002	T	0.81973	0.4936	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.82341	-0.0505	10	0.87932	D	0	.	19.2934	0.94112	0.0:0.0:1.0:0.0	.	1287;1287	F5H090;Q8NB66	.;UN13C_HUMAN	C	1287;1287;1285	ENSP00000260323:W1287C;ENSP00000438156:W1287C;ENSP00000442569:W1285C	ENSP00000260323:W1287C	W	+	3	0	UNC13C	52373427	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.813000	0.99286	2.814000	0.96858	0.650000	0.86243	TGG		0.353	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166	
AQP9	366	broad.mit.edu	37	15	58467216	58467216	+	Missense_Mutation	SNP	C	C	T	rs146866709	byFrequency	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr15:58467216C>T	ENST00000219919.4	+	4	846	c.476C>T	c.(475-477)gCg>gTg	p.A159V	AQP9_ENST00000558772.1_Missense_Mutation_p.A94V|AQP9_ENST00000536493.1_Missense_Mutation_p.A159V|ALDH1A2_ENST00000558231.1_Intron	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	159					amine transport (GO:0015837)|canalicular bile acid transport (GO:0015722)|carboxylic acid transport (GO:0046942)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|glycerol transport (GO:0015793)|immune response (GO:0006955)|metabolic process (GO:0008152)|polyol transport (GO:0015791)|purine nucleobase transport (GO:0006863)|pyrimidine nucleobase transport (GO:0015855)|pyrimidine-containing compound transmembrane transport (GO:0072531)|response to mercury ion (GO:0046689)|response to organic substance (GO:0010033)|response to osmotic stress (GO:0006970)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water homeostasis (GO:0030104)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carboxylic acid transmembrane transporter activity (GO:0046943)|glycerol channel activity (GO:0015254)|polyol transmembrane transporter activity (GO:0015166)|porin activity (GO:0015288)|purine nucleobase transmembrane transporter activity (GO:0005345)|pyrimidine nucleobase transmembrane transporter activity (GO:0005350)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)	p.A159V(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		CTATCTCTGGCGAACGCATTT	0.423																																					p.A159V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C476T	15						.	C	VAL/ALA	2,4382	4.2+/-10.8	0,2,2190	145.0	131.0	136.0		476	-2.2	0.0	15	dbSNP_134	136	0,8584		0,0,4292	yes	missense	AQP9	NM_020980.3	64	0,2,6482	TT,TC,CC		0.0,0.0456,0.0154	benign	159/296	58467216	2,12966	2192	4292	6484	56254508	SO:0001583	missense	366	exon4			AF016495	CCDS10165.1	15q	2005-09-20			ENSG00000103569	ENSG00000103569		"""Ion channels / Aquaporins"""	643	protein-coding gene	gene with protein product		602914					Standard	NM_020980		Approved	SSC1, HsT17287	uc002aez.2	O43315	OTTHUMG00000132631	ENST00000219919.4:c.476C>T	15.37:g.58467216C>T	ENSP00000219919:p.Ala159Val		56254508	NM_020980	Q9NP32	Missense_Mutation	SNP	ENST00000219919.4	37	CCDS10165.1	.	.	.	.	.	.	.	.	.	.	C	7.752	0.703600	0.15172	4.56E-4	0.0	ENSG00000103569	ENST00000219919;ENST00000536493	D;D	0.84298	-1.83;-1.83	5.17	-2.17	0.07059	Aquaporin-like (2);	1.689240	0.02810	N	0.124168	T	0.61400	0.2344	N	0.02213	-0.635	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.54583	-0.8272	10	0.16420	T	0.52	.	1.7209	0.02911	0.1112:0.319:0.2186:0.3512	.	159	O43315	AQP9_HUMAN	V	159	ENSP00000219919:A159V;ENSP00000441390:A159V	ENSP00000219919:A159V	A	+	2	0	AQP9	56254508	0.000000	0.05858	0.003000	0.11579	0.936000	0.57629	-0.034000	0.12225	-0.200000	0.10300	-0.339000	0.08088	GCG		0.423	AQP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255878.2	NM_020980	
GCNT3	9245	broad.mit.edu	37	15	59911089	59911089	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr15:59911089G>C	ENST00000396065.1	+	3	1100	c.652G>C	c.(652-654)Gtg>Ctg	p.V218L	GCNT3_ENST00000560585.1_Missense_Mutation_p.V218L	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	218					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|immunoglobulin production in mucosal tissue (GO:0002426)|intestinal absorption (GO:0050892)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|tissue morphogenesis (GO:0048729)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0047225)|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.V218L(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCAGAGCTCAGTGCCGTGGAA	0.493																																					p.V218L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G652C	15						.						134.0	128.0	130.0					15																	59911089		2190	4290	6480	57698381	SO:0001583	missense	9245	exon3			AF102542	CCDS10172.1	15q22	2013-02-25			ENSG00000140297	ENSG00000140297	2.4.1.102, 2.4.1.150	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4205	protein-coding gene	gene with protein product		606836				9915862, 9988682	Standard	NM_004751		Approved	C2GnT-M, C2/4GnT, C2GnT2	uc002age.3	O95395	OTTHUMG00000132726	ENST00000396065.1:c.652G>C	15.37:g.59911089G>C	ENSP00000379377:p.Val218Leu		57698381	NM_004751		Missense_Mutation	SNP	ENST00000396065.1	37	CCDS10172.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470874	0.84533	.	.	ENSG00000140297	ENST00000396065	T	0.11604	2.76	6.17	6.17	0.99709	.	0.059482	0.64402	D	0.000003	T	0.32882	0.0844	M	0.83692	2.655	0.58432	D	0.999991	D	0.63046	0.992	P	0.58077	0.832	T	0.03121	-1.1070	10	0.17369	T	0.5	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	218	O95395	GCNT3_HUMAN	L	218	ENSP00000379377:V218L	ENSP00000379377:V218L	V	+	1	0	GCNT3	57698381	1.000000	0.71417	0.976000	0.42696	0.967000	0.64934	3.398000	0.52579	2.941000	0.99782	0.655000	0.94253	GTG		0.493	GCNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256068.1	NM_004751	
PLEKHO2	80301	broad.mit.edu	37	15	65157968	65157968	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr15:65157968A>G	ENST00000323544.4	+	6	1482	c.1354A>G	c.(1354-1356)Agg>Ggg	p.R452G	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	452								p.R452G(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						GGAGCAGCTGAGGCAGGCCAC	0.597																																					p.R402G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1204G	15						.						36.0	38.0	37.0					15																	65157968		2202	4299	6501	62945021	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.1354A>G	15.37:g.65157968A>G	ENSP00000326706:p.Arg452Gly		62945021	NM_001195059	Q7L4H4|Q8WYS8	Missense_Mutation	SNP	ENST00000323544.4	37	CCDS10196.1	.	.	.	.	.	.	.	.	.	.	A	18.23	3.578618	0.65878	.	.	ENSG00000241839	ENST00000323544	T	0.39056	1.1	5.13	5.13	0.70059	.	0.208186	0.49305	D	0.000145	T	0.50360	0.1611	L	0.32530	0.975	0.34783	D	0.734985	D;D	0.89917	0.999;1.0	D;D	0.80764	0.994;0.991	T	0.63778	-0.6560	10	0.72032	D	0.01	.	9.5055	0.39044	0.8069:0.1931:0.0:0.0	.	402;452	Q8TD55-2;Q8TD55	.;PKHO2_HUMAN	G	452	ENSP00000326706:R452G	ENSP00000326706:R452G	R	+	1	2	PLEKHO2	62945021	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.337000	0.52120	1.930000	0.55929	0.448000	0.29417	AGG		0.597	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256659.1	NM_025201	
SNAPC5	10302	broad.mit.edu	37	15	66786817	66786817	+	Missense_Mutation	SNP	G	G	A	rs144538572		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr15:66786817G>A	ENST00000316634.5	-	3	335	c.254C>T	c.(253-255)aCg>aTg	p.T85M	MIR4512_ENST00000583257.1_RNA|SNAPC5_ENST00000563480.2_Missense_Mutation_p.T85M|SNAPC5_ENST00000395589.2_Missense_Mutation_p.T85M|SNAPC5_ENST00000307979.7_Missense_Mutation_p.T55M|CTD-3185P2.1_ENST00000565387.1_RNA|SNAPC5_ENST00000566658.1_3'UTR			O75971	SNPC5_HUMAN	small nuclear RNA activating complex, polypeptide 5, 19kDa	85					gene expression (GO:0010467)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T85M(1)|p.T85R(1)		breast(1)|large_intestine(1)	2						ctcctcttccGTCACATGACT	0.468																																					p.T85M												.	.	2	Substitution - Missense(2)	large_intestine(1)|breast(1)	c.C254T	15						.	G	MET/THR	0,4402		0,0,2201	186.0	160.0	169.0		254	-4.8	0.0	15	dbSNP_134	169	1,8597	1.2+/-3.3	0,1,4298	no	missense	SNAPC5	NM_006049.2	81	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	benign	85/99	66786817	1,12999	2201	4299	6500	64573871	SO:0001583	missense	10302	exon3			AF093593	CCDS10217.1	15q22	2010-07-08	2002-08-29		ENSG00000174446	ENSG00000174446			15484	protein-coding gene	gene with protein product		605979	"""small nuclear RNA activating complex, polypeptide 5, 19kD"""			9732265	Standard	NM_006049		Approved	SNAP19	uc002apt.1	O75971	OTTHUMG00000133195	ENST00000316634.5:c.254C>T	15.37:g.66786817G>A	ENSP00000319597:p.Thr85Met		64573871	NM_006049	A8K7N6|Q96CF3	Missense_Mutation	SNP	ENST00000316634.5	37	CCDS10217.1	.	.	.	.	.	.	.	.	.	.	G	5.503	0.277825	0.10403	0.0	1.16E-4	ENSG00000174446	ENST00000395589;ENST00000316634;ENST00000307979	.	.	.	5.67	-4.85	0.03142	.	4.242400	0.01856	N	0.036295	T	0.28499	0.0705	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33675	-0.9859	8	0.87932	D	0	4.3018	4.1687	0.10318	0.3344:0.0:0.2214:0.4442	.	85	O75971	SNPC5_HUMAN	M	85;85;55	.	ENSP00000308439:T55M	T	-	2	0	SNAPC5	64573871	0.001000	0.12720	0.000000	0.03702	0.125000	0.20455	-0.286000	0.08399	-0.501000	0.06605	0.655000	0.94253	ACG		0.468	SNAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256905.2		
STRA6	64220	broad.mit.edu	37	15	74474730	74474730	+	Missense_Mutation	SNP	G	G	T	rs201415297		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr15:74474730G>T	ENST00000323940.5	-	15	1617	c.1372C>A	c.(1372-1374)Ctc>Atc	p.L458I	STRA6_ENST00000416286.3_Missense_Mutation_p.L450I|STRA6_ENST00000563965.1_Missense_Mutation_p.L497I|STRA6_ENST00000574278.1_Missense_Mutation_p.L473I|STRA6_ENST00000449139.2_Missense_Mutation_p.L458I|STRA6_ENST00000395105.4_Missense_Mutation_p.L458I|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000423167.2_Missense_Mutation_p.L449I|STRA6_ENST00000535552.1_Missense_Mutation_p.L495I	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	458					adrenal gland development (GO:0030325)|alveolar primary septum development (GO:0061143)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|cognition (GO:0050890)|developmental growth (GO:0048589)|diaphragm development (GO:0060539)|digestive tract morphogenesis (GO:0048546)|ductus arteriosus closure (GO:0097070)|ear development (GO:0043583)|embryonic camera-type eye formation (GO:0060900)|embryonic digestive tract development (GO:0048566)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|feeding behavior (GO:0007631)|female genitalia development (GO:0030540)|head development (GO:0060322)|head morphogenesis (GO:0060323)|heart development (GO:0007507)|kidney development (GO:0001822)|learning (GO:0007612)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung vasculature development (GO:0060426)|neuromuscular process (GO:0050905)|nose morphogenesis (GO:0043585)|paramesonephric duct development (GO:0061205)|phototransduction, visible light (GO:0007603)|positive regulation of behavior (GO:0048520)|positive regulation of JAK-STAT cascade (GO:0046427)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol transport (GO:0034633)|smooth muscle tissue development (GO:0048745)|uterus morphogenesis (GO:0061038)|ventricular septum development (GO:0003281)|vitamin A import (GO:0071939)|vocal learning (GO:0042297)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	receptor activity (GO:0004872)|vitamin transporter activity (GO:0051183)	p.L458I(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						CTGCCATGGAGCACAGGCATG	0.617																																					p.L473I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1417A	15						.						40.0	35.0	37.0					15																	74474730		2198	4297	6495	72261783	SO:0001583	missense	64220	exon15			AF352728	CCDS10261.1, CCDS45301.1, CCDS45302.1, CCDS55973.1, CCDS55974.1, CCDS58387.1	15q24.1	2014-07-14	2012-12-07		ENSG00000137868	ENSG00000137868			30650	protein-coding gene	gene with protein product	"""retinol binding protein 4 receptor"""	610745	"""stimulated by retinoic acid gene 6 homolog (mouse)"", ""stimulated by retinoic acid 6 homolog (mouse)"""			17255476, 17273977	Standard	NM_022369		Approved	FLJ12541	uc002axj.3	Q9BX79	OTTHUMG00000138998	ENST00000323940.5:c.1372C>A	15.37:g.74474730G>T	ENSP00000326085:p.Leu458Ile		72261783	NM_001199041	A8K7F1|B7Z5M9|B7Z862|D3DW54|F5GYI8|I3L1G8|Q6PJF8|Q71RB9|Q7L9G1|Q7Z3U9|Q8TB21|Q9BX78|Q9H9U8	Missense_Mutation	SNP	ENST00000323940.5	37	CCDS10261.1	.	.	.	.	.	.	.	.	.	.	G	9.576	1.122284	0.20877	.	.	ENSG00000137868	ENST00000395105;ENST00000323940;ENST00000416286;ENST00000545137;ENST00000449139;ENST00000423167;ENST00000535552;ENST00000536129	T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48	4.91	0.768	0.18487	.	0.233607	0.36034	N	0.002831	T	0.66167	0.2762	L	0.58669	1.825	0.19300	N	0.99997	B;B;B;B;B;P	0.45531	0.254;0.254;0.254;0.138;0.254;0.86	B;B;B;B;B;B	0.37198	0.06;0.06;0.06;0.04;0.06;0.243	T	0.56817	-0.7916	10	0.19590	T	0.45	-17.5606	2.4942	0.04617	0.2192:0.1244:0.5285:0.1279	.	495;496;449;458;497;267	F5GYI8;B7Z5G7;Q9BX79-3;Q9BX79;Q9BX79-4;B3KRT6	.;.;.;STRA6_HUMAN;.;.	I	458;458;390;267;497;449;495;348	ENSP00000378537:L458I;ENSP00000326085:L458I;ENSP00000413012:L449I;ENSP00000440238:L495I	ENSP00000326085:L458I	L	-	1	0	STRA6	72261783	0.021000	0.18746	0.004000	0.12327	0.555000	0.35460	0.199000	0.17237	0.133000	0.18654	0.462000	0.41574	CTC		0.617	STRA6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272891.1		
HMG20A	10363	broad.mit.edu	37	15	77770689	77770689	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr15:77770689G>T	ENST00000381714.3	+	9	1172	c.744G>T	c.(742-744)gaG>gaT	p.E248D	HMG20A_ENST00000336216.4_Missense_Mutation_p.E248D	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	248					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)	p.E248D(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						AGTTTGAGGAGAGGAATGCAG	0.557																																					p.E248D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G744T	15						.						77.0	69.0	72.0					15																	77770689		2196	4294	6490	75557744	SO:0001583	missense	10363	exon9			AF146222	CCDS10295.1	15q24	2011-07-01	2011-04-05		ENSG00000140382	ENSG00000140382		"""High mobility group / Non-canonical"""	5001	protein-coding gene	gene with protein product	"""HMG box domain containing 1"""	605534	"""high-mobility group 20A"""			10773667	Standard	NM_018200		Approved	HMGX1, FLJ10739, HMGXB1	uc002bcr.3	Q9NP66	OTTHUMG00000143729	ENST00000381714.3:c.744G>T	15.37:g.77770689G>T	ENSP00000371133:p.Glu248Asp		75557744	NM_018200	A6NHY3|D3DW78|Q53G31|Q9NSF6	Missense_Mutation	SNP	ENST00000381714.3	37	CCDS10295.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428519	0.83667	.	.	ENSG00000140382	ENST00000336216;ENST00000381714	T;T	0.70749	-0.51;-0.51	5.86	1.78	0.24846	.	0.000000	0.85682	D	0.000000	T	0.78470	0.4288	M	0.78456	2.415	0.52099	D	0.999947	D	0.60160	0.987	P	0.59424	0.857	T	0.75442	-0.3316	10	0.46703	T	0.11	-17.7482	9.244	0.37513	0.3499:0.0:0.6501:0.0	.	248	Q9NP66	HM20A_HUMAN	D	248	ENSP00000336856:E248D;ENSP00000371133:E248D	ENSP00000336856:E248D	E	+	3	2	HMG20A	75557744	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	1.837000	0.39201	0.073000	0.16731	0.563000	0.77884	GAG		0.557	HMG20A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419512.2	NM_018200	
STARD5	80765	broad.mit.edu	37	15	81605693	81605693	+	Silent	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr15:81605693A>G	ENST00000302824.6	-	6	571	c.546T>C	c.(544-546)ggT>ggC	p.G182G		NM_181900.2	NP_871629.1	Q9NSY2	STAR5_HUMAN	StAR-related lipid transfer (START) domain containing 5	182	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				C21-steroid hormone biosynthetic process (GO:0006700)|lipid transport (GO:0006869)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)	lipid binding (GO:0008289)	p.G182G(1)		large_intestine(3)|ovary(1)|skin(1)|stomach(1)	6						GTGGGAGGTAACCGCTGAGGT	0.527																																					p.G182G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T546C	15						.						202.0	170.0	180.0					15																	81605693		2203	4300	6503	79392748	SO:0001819	synonymous_variant	80765	exon6			AF480304	CCDS10318.1	15q26	2011-09-12	2007-08-16		ENSG00000172345	ENSG00000172345		"""StAR-related lipid transfer (START) domain containing"""	18065	protein-coding gene	gene with protein product		607050	"""START domain containing 5"""			12011452	Standard	NM_181900		Approved	MGC10327	uc002bgm.3	Q9NSY2	OTTHUMG00000147342	ENST00000302824.6:c.546T>C	15.37:g.81605693A>G			79392748	NM_181900	P59094	Silent	SNP	ENST00000302824.6	37	CCDS10318.1																																																																																				0.527	STARD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303950.2		
STARD5	80765	broad.mit.edu	37	15	81610758	81610758	+	Silent	SNP	A	A	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr15:81610758A>C	ENST00000302824.6	-	5	511	c.486T>G	c.(484-486)ccT>ccG	p.P162P	STARD5_ENST00000559913.1_5'Flank	NM_181900.2	NP_871629.1	Q9NSY2	STAR5_HUMAN	StAR-related lipid transfer (START) domain containing 5	162	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				C21-steroid hormone biosynthetic process (GO:0006700)|lipid transport (GO:0006869)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)	lipid binding (GO:0008289)	p.P162P(1)		large_intestine(3)|ovary(1)|skin(1)|stomach(1)	6						ACCCTGGAAGAGGTTCACAGA	0.498																																					p.P162P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T486G	15						.						102.0	88.0	93.0					15																	81610758		2203	4300	6503	79397813	SO:0001819	synonymous_variant	80765	exon5			AF480304	CCDS10318.1	15q26	2011-09-12	2007-08-16		ENSG00000172345	ENSG00000172345		"""StAR-related lipid transfer (START) domain containing"""	18065	protein-coding gene	gene with protein product		607050	"""START domain containing 5"""			12011452	Standard	NM_181900		Approved	MGC10327	uc002bgm.3	Q9NSY2	OTTHUMG00000147342	ENST00000302824.6:c.486T>G	15.37:g.81610758A>C			79397813	NM_181900	P59094	Silent	SNP	ENST00000302824.6	37	CCDS10318.1																																																																																				0.498	STARD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303950.2		
TMC3	342125	broad.mit.edu	37	15	81631049	81631049	+	Silent	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr15:81631049C>A	ENST00000359440.5	-	18	2163	c.2028G>T	c.(2026-2028)gtG>gtT	p.V676V	RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000559277.1_RNA|TMC3_ENST00000558726.1_Silent_p.V677V|RP11-761I4.3_ENST00000560973.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3									p.V676V(1)		autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TGTGTCCAACCACGGAGCCAA	0.478																																					p.V676V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2028T	15						.						110.0	117.0	115.0					15																	81631049		1982	4176	6158	79418104	SO:0001819	synonymous_variant	342125	exon18			AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.2028G>T	15.37:g.81631049C>A			79418104	NM_001080532		Silent	SNP	ENST00000359440.5	37	CCDS45324.1																																																																																				0.478	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841	
FSD2	123722	broad.mit.edu	37	15	83455908	83455908	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr15:83455908C>T	ENST00000334574.8	-	2	416	c.235G>A	c.(235-237)Gga>Aga	p.G79R	FSD2_ENST00000541889.1_Missense_Mutation_p.G79R			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	79								p.G79R(1)		breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TCTTCAAGTCCATATAAGTGG	0.428																																					p.G79R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G235A	15						.						153.0	152.0	152.0					15																	83455908		1969	4150	6119	81252962	SO:0001583	missense	123722	exon2			AK122875	CCDS45332.1, CCDS61738.1	15q25.2	2013-02-11	2006-01-11	2006-01-11		ENSG00000186628		"""Fibronectin type III domain containing"""	18024	protein-coding gene	gene with protein product			"""SPRY domain containing 1"""	SPRYD1			Standard	NM_001007122		Approved	RP11-127F21	uc002bjd.2	A1L4K1		ENST00000334574.8:c.235G>A	15.37:g.83455908C>T	ENSP00000335651:p.Gly79Arg		81252962	NM_001007122	B3KVG1|B7ZM02	Missense_Mutation	SNP	ENST00000334574.8	37	CCDS45332.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354073	0.82243	.	.	ENSG00000186628	ENST00000334574;ENST00000541889	T;T	0.44482	0.92;0.92	4.54	4.54	0.55810	.	0.196855	0.25194	N	0.032437	T	0.56934	0.2019	L	0.53249	1.67	0.29615	N	0.846678	D;D	0.69078	0.993;0.997	P;P	0.61722	0.726;0.893	T	0.57033	-0.7880	10	0.56958	D	0.05	-15.9695	16.4643	0.84073	0.0:1.0:0.0:0.0	.	79;79	B7ZM02;A1L4K1	.;FSD2_HUMAN	R	79	ENSP00000335651:G79R;ENSP00000444078:G79R	ENSP00000335651:G79R	G	-	1	0	FSD2	81252962	0.916000	0.31088	0.885000	0.34714	0.987000	0.75469	3.592000	0.53993	2.354000	0.79902	0.655000	0.94253	GGA		0.428	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418385.1	NM_001007122	
WHAMM	123720	broad.mit.edu	37	15	83499641	83499641	+	Silent	SNP	T	T	A	rs200993177|rs369423285	byFrequency	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr15:83499641T>A	ENST00000286760.4	+	9	2031	c.1932T>A	c.(1930-1932)ccT>ccA	p.P644P		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules	644	Mediates actin nucleation. {ECO:0000269|PubMed:18614018}.|Pro-rich.				actin filament organization (GO:0007015)|actin filament reorganization (GO:0090527)|ER to Golgi vesicle-mediated transport (GO:0006888)|focal adhesion assembly (GO:0048041)|lamellipodium assembly (GO:0030032)|membrane tubulation (GO:0097320)|positive regulation of actin nucleation (GO:0051127)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|Golgi membrane (GO:0000139)	Arp2/3 complex binding (GO:0071933)|GTP-Rho binding (GO:0017049)|microtubule binding (GO:0008017)	p.P644P(4)		endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						ctcctcctcctccaccaccac	0.562																																					p.P644P												.	.	4	Substitution - coding silent(4)	large_intestine(2)|endometrium(2)	c.T1932A	15						.						22.0	24.0	23.0					15																	83499641		1914	4096	6010	81296695	SO:0001819	synonymous_variant	123720	exon9			AK126887	CCDS45333.1	15q25.2	2009-02-18	2009-02-18	2009-02-18	ENSG00000156232	ENSG00000156232			30493	protein-coding gene	gene with protein product		612393	"""WAS protein homology region 2 domain containing 1"""	WHDC1		11853319, 18226259, 18614018, 18812086	Standard	XM_005272422		Approved	KIAA1971	uc002bje.3	Q8TF30		ENST00000286760.4:c.1932T>A	15.37:g.83499641T>A			81296695	NM_001080435	Q8N1J9	Silent	SNP	ENST00000286760.4	37	CCDS45333.1																																																																																				0.562	WHAMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418463.1		
ZNF592	9640	broad.mit.edu	37	15	85326043	85326043	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr15:85326043T>C	ENST00000560079.2	+	4	425	c.137T>C	c.(136-138)aTa>aCa	p.I46T	ZNF592_ENST00000299927.3_Missense_Mutation_p.I46T	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	46					cell death (GO:0008219)|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.I46T(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCTCCAGGCATATGTATGGAT	0.557																																					p.I46T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T137C	15						.						146.0	127.0	133.0					15																	85326043		2203	4299	6502	83127047	SO:0001583	missense	9640	exon4			D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.137T>C	15.37:g.85326043T>C	ENSP00000452877:p.Ile46Thr		83127047	NM_014630	Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	T	7.897	0.733515	0.15574	.	.	ENSG00000166716	ENST00000299927	T	0.00599	6.3	6.17	5.05	0.67936	.	0.140530	0.85682	D	0.000000	T	0.00440	0.0014	N	0.12182	0.205	0.32624	N	0.522946	B	0.02656	0.0	B	0.01281	0.0	T	0.37478	-0.9704	10	0.21540	T	0.41	-4.2939	10.6326	0.45545	0.0:0.075:0.0:0.925	.	46	Q92610	ZN592_HUMAN	T	46	ENSP00000299927:I46T	ENSP00000299927:I46T	I	+	2	0	ZNF592	83127047	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	4.764000	0.62264	1.148000	0.42385	0.533000	0.62120	ATA		0.557	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630	
ZNF592	9640	broad.mit.edu	37	15	85326620	85326620	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr15:85326620C>T	ENST00000560079.2	+	4	1002	c.714C>T	c.(712-714)ttC>ttT	p.F238F	ZNF592_ENST00000299927.3_Silent_p.F238F	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	238					cell death (GO:0008219)|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.F238F(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTCGATTCTTCGGGGAAGCTT	0.582																																					p.F238F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C714T	15						.						102.0	117.0	112.0					15																	85326620		2203	4299	6502	83127624	SO:0001819	synonymous_variant	9640	exon4			D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.714C>T	15.37:g.85326620C>T			83127624	NM_014630	Q2M1T2|Q504Y9	Silent	SNP	ENST00000560079.2	37	CCDS32317.1																																																																																				0.582	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630	
HAPLN3	145864	broad.mit.edu	37	15	89424726	89424726	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr15:89424726C>T	ENST00000359595.3	-	3	569	c.355G>A	c.(355-357)Gtg>Atg	p.V119M	HAPLN3_ENST00000562889.1_Missense_Mutation_p.V181M	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	119	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.V119M(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)	CGCAGGTGCACGCGGCCTTGG	0.622																																					p.V119M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G355A	15						.						104.0	79.0	88.0					15																	89424726		2200	4299	6499	87225730	SO:0001583	missense	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.355G>A	15.37:g.89424726C>T	ENSP00000352606:p.Val119Met		87225730	NM_178232	A8K7P0	Missense_Mutation	SNP	ENST00000359595.3	37	CCDS10346.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417858	0.62622	.	.	ENSG00000140511	ENST00000359595	T	0.02890	4.12	4.21	4.21	0.49690	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.20210	0.0486	M	0.91249	3.19	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.11251	-1.0595	10	0.87932	D	0	-17.2432	15.5717	0.76345	0.0:1.0:0.0:0.0	.	119;119	A8K7T8;Q96S86	.;HPLN3_HUMAN	M	119	ENSP00000352606:V119M	ENSP00000352606:V119M	V	-	1	0	HAPLN3	87225730	1.000000	0.71417	0.200000	0.23457	0.400000	0.30750	5.345000	0.65987	1.870000	0.54199	0.650000	0.86243	GTG		0.622	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	NM_178232	
C15orf52	388115	broad.mit.edu	37	15	40631782	40631782	+	Frame_Shift_Del	DEL	C	C	-	rs199693415		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr15:40631782delC	ENST00000559313.1	-	3	309	c.294delG	c.(292-294)gggfs	p.G98fs	C15orf52_ENST00000397536.2_5'Flank|C15orf52_ENST00000557973.1_5'Flank	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	98							poly(A) RNA binding (GO:0044822)	p.M99fs*3(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		TCACAGCCATCCCCCCCTGCT	0.647																																					p.G98fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.294delG	15						.						81.0	90.0	87.0					15																	40631782		2125	4232	6357	38419074	SO:0001589	frameshift_variant	388115	exon3			AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.294delG	15.37:g.40631782delC	ENSP00000453969:p.Gly98fs		38419074	NM_207380	B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Frame_Shift_Del	DEL	ENST00000559313.1	37	CCDS10055.2																																																																																				0.647	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319567.2	NM_207380	
B2M	567	broad.mit.edu	37	15	45003781	45003782	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	CT	CT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr15:45003781_45003782delCT	ENST00000558401.1	+	1	107_108	c.37_38delCT	c.(37-39)ctcfs	p.L13fs	B2M_ENST00000559916.1_Frame_Shift_Del_p.L13fs|B2M_ENST00000544417.1_Frame_Shift_Del_p.L13fs|PATL2_ENST00000558573.1_5'Flank	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	13					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein refolding (GO:0042026)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to molecule of bacterial origin (GO:0002237)|retina homeostasis (GO:0001895)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cytoplasm (GO:0005737)|early endosome lumen (GO:0031905)|early endosome membrane (GO:0031901)|endoplasmic reticulum lumen (GO:0005788)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.L15fs*41(4)|p.A11fs*42(1)|p.L13F(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GCTCGCGCTACTCTCTCTTTCT	0.614																																					p.13_13del												.	.	6	Deletion - Frameshift(5)|Substitution - Missense(1)	large_intestine(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|skin(1)	c.37_38del	15						.																																			42791074	SO:0001589	frameshift_variant	567	exon1			AB021288	CCDS10113.1	15q21-q22.2	2013-01-11			ENSG00000166710	ENSG00000166710		"""Immunoglobulin superfamily / C1-set domain containing"""	914	protein-coding gene	gene with protein product		109700					Standard	NM_004048		Approved		uc001zuc.3	P61769	OTTHUMG00000131247	ENST00000558401.1:c.37_38delCT	15.37:g.45003787_45003788delCT	ENSP00000452780:p.Leu13fs		42791073	NM_004048	P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Frame_Shift_Del	DEL	ENST00000558401.1	37	CCDS10113.1																																																																																				0.614	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254007.2	NM_004048	
HAPLN3	145864	broad.mit.edu	37	15	89421280	89421280	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr15:89421280delG	ENST00000359595.3	-	5	1218	c.1004delC	c.(1003-1005)ccafs	p.P335fs	HAPLN3_ENST00000562889.1_Frame_Shift_Del_p.P397fs	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	335	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)	p.P335fs*>26(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)	CCCAGGCTCTGGGGGCCCACA	0.662																																					p.P335fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1004delC	15						.						60.0	67.0	65.0					15																	89421280		2200	4299	6499	87222284	SO:0001589	frameshift_variant	145864	exon5			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.1004delC	15.37:g.89421280delG	ENSP00000352606:p.Pro335fs		87222284	NM_178232	A8K7P0	Frame_Shift_Del	DEL	ENST00000359595.3	37	CCDS10346.1																																																																																				0.662	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	NM_178232	
ANPEP	290	broad.mit.edu	37	15	90340865	90340865	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr15:90340865T>G	ENST00000300060.6	-	15	2411	c.2098A>C	c.(2098-2100)Agc>Cgc	p.S700R	ANPEP_ENST00000558177.1_5'UTR	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	700	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.S700R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	CTCAGGCTGCTCAGGGCGGCC	0.562																																					p.S700R	NSCLC(30;827 977 2459 19669 26125)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2098C	15						.						140.0	129.0	133.0					15																	90340865		2200	4299	6499	88141869	SO:0001583	missense	290	exon15			M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.2098A>C	15.37:g.90340865T>G	ENSP00000300060:p.Ser700Arg		88141869	NM_001150	Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	T	13.21	2.169545	0.38315	.	.	ENSG00000166825	ENST00000300060	T	0.05382	3.45	5.46	4.22	0.49857	.	0.275088	0.46442	D	0.000289	T	0.05273	0.0140	L	0.33710	1.025	0.33210	D	0.553272	B	0.06786	0.001	B	0.11329	0.006	T	0.21965	-1.0230	10	0.19590	T	0.45	.	8.7833	0.34804	0.0:0.1128:0.0:0.8872	.	700	P15144	AMPN_HUMAN	R	700	ENSP00000300060:S700R	ENSP00000300060:S700R	S	-	1	0	ANPEP	88141869	0.253000	0.23982	1.000000	0.80357	0.997000	0.91878	0.472000	0.22116	0.881000	0.35993	0.533000	0.62120	AGC		0.562	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1		
ATF7IP2	80063	broad.mit.edu	37	16	10525112	10525112	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr16:10525112A>G	ENST00000396560.2	+	3	862	c.635A>G	c.(634-636)aAa>aGa	p.K212R	ATF7IP2_ENST00000396559.1_Missense_Mutation_p.K212R|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.K212R|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.K212R|ATF7IP2_ENST00000543967.1_Intron	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	212					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.K212E(1)		large_intestine(3)	3						TCACATGATAAAAGGCAAAGT	0.393																																					p.K212R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A635G	16						.						124.0	118.0	120.0					16																	10525112		2197	4300	6497	10432613	SO:0001583	missense	80063	exon2			AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.635A>G	16.37:g.10525112A>G	ENSP00000379808:p.Lys212Arg		10432613	NM_024997	B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Missense_Mutation	SNP	ENST00000396560.2	37	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	A	11.14	1.550456	0.27739	.	.	ENSG00000166669	ENST00000396559;ENST00000396560;ENST00000535850;ENST00000356427;ENST00000324570	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	5.43	1.91	0.25777	.	0.667332	0.13160	N	0.409178	T	0.39784	0.1091	L	0.44542	1.39	0.09310	N	1	D;P	0.54964	0.969;0.939	P;P	0.53401	0.725;0.725	T	0.27297	-1.0078	10	0.59425	D	0.04	-11.825	1.4418	0.02356	0.5371:0.1963:0.1006:0.166	.	212;212	Q5U623-2;Q5U623	.;MCAF2_HUMAN	R	212	ENSP00000379807:K212R;ENSP00000379808:K212R;ENSP00000440791:K212R;ENSP00000348799:K212R;ENSP00000322811:K212R	ENSP00000322811:K212R	K	+	2	0	ATF7IP2	10432613	0.009000	0.17119	0.047000	0.18901	0.031000	0.12232	1.290000	0.33319	0.908000	0.36671	0.402000	0.26972	AAA		0.393	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997	
SNX29	92017	broad.mit.edu	37	16	12093167	12093167	+	Silent	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr16:12093167T>C	ENST00000566228.1	+	2	90	c.21T>C	c.(19-21)aaT>aaC	p.N7N		NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	7						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)	p.N7N(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						CACAGAACAATGACAAAAGAC	0.433																																					p.N7N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T21C	16						.						99.0	88.0	92.0					16																	12093167		2197	4300	6497	12000668	SO:0001819	synonymous_variant	84127	exon2			AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"""Sorting nexins"""	30542	protein-coding gene	gene with protein product			"""RUN domain containing 2A"""	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.21T>C	16.37:g.12093167T>C			12000668	NM_032167	B5MDW2|Q8N2X2|Q9HA26	Silent	SNP	ENST00000566228.1	37	CCDS10553.2																																																																																				0.433	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1		
IFT140	9742	broad.mit.edu	37	16	1616173	1616173	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr16:1616173T>G	ENST00000426508.2	-	16	2253	c.1890A>C	c.(1888-1890)caA>caC	p.Q630H	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	630					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)		p.Q630H(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TATTAGTCTCTTGCTCATTAA	0.428																																					p.Q630H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1890C	16						.						203.0	200.0	201.0					16																	1616173		2199	4300	6499	1556174	SO:0001583	missense	9742	exon16			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.1890A>C	16.37:g.1616173T>G	ENSP00000406012:p.Gln630His		1556174	NM_014714	A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	T	5.600	0.295488	0.10622	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T	0.67698	-0.28	5.29	-7.34	0.01427	.	0.654959	0.14996	N	0.286392	T	0.36580	0.0972	N	0.14661	0.345	0.09310	N	1	B;B	0.18461	0.009;0.028	B;B	0.18561	0.006;0.022	T	0.09207	-1.0685	10	0.45353	T	0.12	.	3.501	0.07673	0.1584:0.369:0.0792:0.3934	.	630;355	Q96RY7;B4DR58	IF140_HUMAN;.	H	630	ENSP00000406012:Q630H	ENSP00000380562:Q630H	Q	-	3	2	IFT140	1556174	0.010000	0.17322	0.003000	0.11579	0.269000	0.26545	-1.366000	0.02585	-1.305000	0.02327	0.482000	0.46254	CAA		0.428	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714	
NOMO1	23420	broad.mit.edu	37	16	14947421	14947421	+	Missense_Mutation	SNP	C	C	T	rs142296824		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr16:14947421C>T	ENST00000287667.7	+	8	1004	c.833C>T	c.(832-834)tCg>tTg	p.S278L	NOMO1_ENST00000566883.1_3'UTR	NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	278						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)	p.S278L(1)		endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						GAAGATGGCTCGTTCTCTTTC	0.502																																					p.S278L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C833T	16						.	C	LEU/SER	1,4391		0,1,2195	144.0	156.0	152.0		833	2.7	0.8	16	dbSNP_134	152	0,8594		0,0,4297	no	missense	NOMO1	NM_014287.3	145	0,1,6492	TT,TC,CC		0.0,0.0228,0.0077	benign	278/1223	14947421	1,12985	2196	4297	6493	14854922	SO:0001583	missense	23420	exon8			X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.833C>T	16.37:g.14947421C>T	ENSP00000287667:p.Ser278Leu		14854922	NM_014287	P78421|Q8IW21|Q96DG0	Missense_Mutation	SNP	ENST00000287667.7	37	CCDS10556.1	.	.	.	.	.	.	.	.	.	.	.	11.01	1.511938	0.27036	2.28E-4	0.0	ENSG00000103512	ENST00000287667;ENST00000456867;ENST00000536948	T	0.03982	3.74	2.69	2.69	0.31865	.	0.128256	0.53938	D	0.000046	T	0.05593	0.0147	L	0.55481	1.735	0.52501	D	0.999954	B	0.17268	0.021	B	0.09377	0.004	T	0.28808	-1.0032	10	0.20046	T	0.44	-17.0983	11.1669	0.48547	0.0:1.0:0.0:0.0	.	278	Q15155	NOMO1_HUMAN	L	278;278;111	ENSP00000287667:S278L	ENSP00000287667:S278L	S	+	2	0	NOMO1	14854922	1.000000	0.71417	0.808000	0.32385	0.500000	0.33767	4.958000	0.63660	1.507000	0.48752	0.398000	0.26397	TCG		0.502	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1		
IFT140	9742	broad.mit.edu	37	16	1633323	1633323	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr16:1633323C>T	ENST00000426508.2	-	12	1787	c.1424G>A	c.(1423-1425)cGg>cAg	p.R475Q	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	475					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)		p.R475Q(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				ACCTGCACTCCGTATCGCGGC	0.577																																					p.R475Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1424A	16						.						84.0	68.0	74.0					16																	1633323		2199	4300	6499	1573324	SO:0001583	missense	9742	exon12			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.1424G>A	16.37:g.1633323C>T	ENSP00000406012:p.Arg475Gln		1573324	NM_014714	A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.851781	0.32699	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T	0.70399	-0.48	5.48	3.55	0.40652	.	0.303465	0.31589	N	0.007381	T	0.63674	0.2531	M	0.69248	2.105	0.09310	N	1	B;B	0.31752	0.065;0.338	B;B	0.27608	0.037;0.081	T	0.51553	-0.8691	10	0.26408	T	0.33	.	10.1553	0.42818	0.0:0.8577:0.0:0.1423	.	475;200	Q96RY7;B4DR58	IF140_HUMAN;.	Q	475	ENSP00000406012:R475Q	ENSP00000380562:R475Q	R	-	2	0	IFT140	1573324	0.022000	0.18835	0.001000	0.08648	0.002000	0.02628	1.291000	0.33330	0.692000	0.31613	-0.794000	0.03295	CGG		0.577	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714	
MYH11	4629	broad.mit.edu	37	16	15815443	15815443	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr16:15815443C>T	ENST00000300036.5	-	32	4523	c.4414G>A	c.(4414-4416)Gac>Aac	p.D1472N	NDE1_ENST00000396355.1_Intron|MYH11_ENST00000452625.2_Missense_Mutation_p.D1479N|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396354.1_Intron|MYH11_ENST00000396324.3_Missense_Mutation_p.D1479N|MYH11_ENST00000576790.2_Missense_Mutation_p.D1472N	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1472					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.D1472N(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCAGCTCTGTCCCTCTCATCC	0.557			T	CBFB	AML																																p.D1479N			Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4435A	16						.						104.0	99.0	101.0					16																	15815443		2197	4300	6497	15722944	SO:0001583	missense	4629	exon33			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.4414G>A	16.37:g.15815443C>T	ENSP00000300036:p.Asp1472Asn		15722944	NM_001040114	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900594	0.72754	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39	4.84	4.84	0.62591	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.91395	0.7285	M	0.89968	3.075	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	0.80764	0.994;0.994;0.994;0.992;0.992	D	0.93373	0.6737	10	0.87932	D	0	.	16.9271	0.86179	0.0:1.0:0.0:0.0	.	1479;1472;1479;1472;1479	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	N	1472;1472;1479;1479;1479	ENSP00000300036:D1472N;ENSP00000345136:D1472N;ENSP00000379616:D1479N;ENSP00000407821:D1479N	ENSP00000300036:D1472N	D	-	1	0	MYH11	15722944	1.000000	0.71417	1.000000	0.80357	0.172000	0.22775	7.818000	0.86416	2.224000	0.72417	0.313000	0.20887	GAC		0.557	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113	
CCP110	9738	broad.mit.edu	37	16	19548038	19548038	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr16:19548038C>T	ENST00000381396.5	+	4	1294	c.1047C>T	c.(1045-1047)acC>acT	p.T349T	CCP110_ENST00000396212.2_Silent_p.T349T|CCP110_ENST00000396208.2_Silent_p.T349T	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	349					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)		p.T349T(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						CTTTTGTTACCGAAAATAATG	0.383																																					p.T349T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1047T	16						.						43.0	43.0	43.0					16																	19548038		2197	4300	6497	19455539	SO:0001819	synonymous_variant	9738	exon5			AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.1047C>T	16.37:g.19548038C>T			19455539	NM_014711	B7WP23|O43335|Q68DV9|Q8NE13	Silent	SNP	ENST00000381396.5	37	CCDS55992.1																																																																																				0.383	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254284.2	NM_014711	
DNAH3	55567	broad.mit.edu	37	16	21152672	21152672	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr16:21152672G>T	ENST00000261383.3	-	4	469	c.470C>A	c.(469-471)cCc>cAc	p.P157H	DNAH3_ENST00000415178.1_Missense_Mutation_p.P157H|DNAH3_ENST00000575491.1_5'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	157	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.P157H(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTTCCTCATGGGCTCTGATGA	0.498																																					p.P157H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C470A	16						.						95.0	78.0	84.0					16																	21152672		2201	4300	6501	21060173	SO:0001583	missense	55567	exon4			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.470C>A	16.37:g.21152672G>T	ENSP00000261383:p.Pro157His		21060173	NM_017539	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.223915	0.58668	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	T;T	0.22539	1.95;2.1	4.8	4.8	0.61643	.	3.855320	0.00520	N	0.000188	T	0.37293	0.0998	L	0.36672	1.1	0.33998	D	0.649938	B;D	0.67145	0.399;0.996	B;P	0.57468	0.101;0.821	T	0.09975	-1.0650	10	0.44086	T	0.13	.	13.5407	0.61672	0.0:0.0:1.0:0.0	.	157;128	Q8TD57;Q8TD57-2	DYH3_HUMAN;.	H	157;157;128	ENSP00000261383:P157H;ENSP00000394245:P157H	ENSP00000261383:P157H	P	-	2	0	DNAH3	21060173	0.970000	0.33590	0.867000	0.34043	0.438000	0.31896	2.614000	0.46359	2.651000	0.90000	0.650000	0.86243	CCC		0.498	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
PALB2	79728	broad.mit.edu	37	16	23646862	23646862	+	Silent	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr16:23646862A>G	ENST00000261584.4	-	4	1157	c.1005T>C	c.(1003-1005)aaT>aaC	p.N335N		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	335	DNA-binding (with the preference D loop > dsDNA > ssDNA).				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.N335N(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		CTGGTAAGTTATTGTAGGTGA	0.338			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																													p.N335N		yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	partner and localizer of BRCA2		"""L, O, E"""	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1005C	16						.						102.0	99.0	100.0					16																	23646862		2197	4300	6497	23554363	SO:0001819	synonymous_variant	79728	exon4				CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.1005T>C	16.37:g.23646862A>G			23554363	NM_024675	A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Silent	SNP	ENST00000261584.4	37	CCDS32406.1																																																																																				0.338	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675	
PRKCB	5579	broad.mit.edu	37	16	23847589	23847589	+	Silent	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr16:23847589G>A	ENST00000321728.7	+	1	268	c.93G>A	c.(91-93)gtG>gtA	p.V31V	PRKCB_ENST00000303531.7_Silent_p.V31V|PRKCB_ENST00000498058.1_Silent_p.V31V	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	31					apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.V31V(2)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	AGAAGAACGTGCATGAGGTCA	0.677																																					p.V31V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G93A	16						.						83.0	74.0	77.0					16																	23847589		2197	4300	6497	23755090	SO:0001819	synonymous_variant	5579	exon1			M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.93G>A	16.37:g.23847589G>A			23755090	NM_212535	C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Silent	SNP	ENST00000321728.7	37	CCDS10618.1																																																																																				0.677	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535	
KIAA0556	23247	broad.mit.edu	37	16	27786318	27786318	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr16:27786318C>T	ENST00000261588.4	+	24	4381	c.4362C>T	c.(4360-4362)gaC>gaT	p.D1454D		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1454						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.D1454D(2)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TGGGCGGGGACGTCCGCACCC	0.632																																					p.D1454D												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C4362T	16						.						94.0	72.0	80.0					16																	27786318		2197	4300	6497	27693819	SO:0001819	synonymous_variant	23247	exon24			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.4362C>T	16.37:g.27786318C>T			27693819	NM_015202	A7E2C2	Silent	SNP	ENST00000261588.4	37	CCDS32415.1																																																																																				0.632	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202	
SBK1	388228	broad.mit.edu	37	16	28331670	28331670	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr16:28331670G>T	ENST00000341901.4	+	4	1492	c.703G>T	c.(703-705)Gac>Tac	p.D235Y		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	235	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D235Y(1)		kidney(1)|lung(3)|ovary(1)	5						CACGGGCGTGGACGTGTGGGC	0.721																																					p.D235Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G703T	16						.						15.0	25.0	22.0					16																	28331670		2134	4235	6369	28239171	SO:0001583	missense	388228	exon4				CCDS32416.1	16p11.2	2013-09-27	2013-09-27			ENSG00000188322			17699	protein-coding gene	gene with protein product			"""SH3-binding domain kinase 1"""				Standard	XM_005255315		Approved	Sbk	uc002dpd.3	Q52WX2		ENST00000341901.4:c.703G>T	16.37:g.28331670G>T	ENSP00000343248:p.Asp235Tyr		28239171	NM_001024401		Missense_Mutation	SNP	ENST00000341901.4	37	CCDS32416.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.610736	0.87258	.	.	ENSG00000188322	ENST00000341901	T	0.73469	-0.75	4.31	4.31	0.51392	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	0.91509	0.7319	H	0.98721	4.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94674	0.7859	10	0.87932	D	0	-28.6203	14.2585	0.66067	0.0:0.0:1.0:0.0	.	235	Q52WX2	SBK1_HUMAN	Y	235	ENSP00000343248:D235Y	ENSP00000343248:D235Y	D	+	1	0	SBK1	28239171	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.474000	0.97718	1.920000	0.55613	0.462000	0.41574	GAC		0.721	SBK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387677.1	XM_370948	
PRSS22	64063	broad.mit.edu	37	16	2903898	2903898	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr16:2903898C>A	ENST00000161006.3	-	5	750	c.685G>T	c.(685-687)Ggc>Tgc	p.G229C	PRSS22_ENST00000571228.1_Missense_Mutation_p.G119C|PRSS22_ENST00000574768.1_5'Flank	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	229	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.G229C(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						TCCAAGTAGCCGGCACACAGC	0.637																																					p.G229C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G685T	16						.						77.0	72.0	74.0					16																	2903898		2198	4300	6498	2843899	SO:0001583	missense	64063	exon5			AF321182	CCDS10481.1	16p13.3	2010-05-07			ENSG00000005001	ENSG00000005001		"""Serine peptidases / Serine peptidases"""	14368	protein-coding gene	gene with protein product	"""brain-specific serine protease 4"""	609343				11602603, 15701722	Standard	XM_005255473		Approved	hBSSP-4, BSSP-4, SP001LA	uc002cry.1	Q9GZN4	OTTHUMG00000128961	ENST00000161006.3:c.685G>T	16.37:g.2903898C>A	ENSP00000161006:p.Gly229Cys		2843899	NM_022119	O43342|Q6UXE0	Missense_Mutation	SNP	ENST00000161006.3	37	CCDS10481.1	.	.	.	.	.	.	.	.	.	.	c	18.15	3.560227	0.65538	.	.	ENSG00000005001	ENST00000161006	D	0.91124	-2.79	4.24	4.24	0.50183	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.53938	D	0.000046	D	0.97480	0.9175	H	0.99404	4.55	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.98799	1.0739	10	0.87932	D	0	.	14.5622	0.68148	0.0:1.0:0.0:0.0	.	229	Q9GZN4	BSSP4_HUMAN	C	229	ENSP00000161006:G229C	ENSP00000161006:G229C	G	-	1	0	PRSS22	2843899	0.999000	0.42202	0.990000	0.47175	0.700000	0.40528	4.461000	0.60115	2.099000	0.63709	0.306000	0.20318	GGC		0.637	PRSS22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250943.1	NM_022119	
APOBR	55911	broad.mit.edu	37	16	28507806	28507806	+	Missense_Mutation	SNP	C	C	T	rs199677239	byFrequency	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr16:28507806C>T	ENST00000431282.1	+	3	1427	c.1417C>T	c.(1417-1419)Cgg>Tgg	p.R473W	APOBR_ENST00000328423.5_Missense_Mutation_p.R473W|CLN3_ENST00000567160.1_5'Flank|CLN3_ENST00000569430.1_5'Flank|APOBR_ENST00000564831.1_Missense_Mutation_p.R482W			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	473	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)	p.R473W(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CAGGGCCGACCGGGCCAGGAT	0.642													C|||	7	0.00139776	0.0045	0.0014	5008	,	,		18474	0.0		0.0	False		,,,				2504	0.0				p.R473W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1417T	16						.	C	TRP/ARG	13,4219		0,13,2103	26.0	31.0	29.0		1417	-8.2	0.0	16		29	0,8486		0,0,4243	yes	missense	APOBR	NM_018690.3	101	0,13,6346	TT,TC,CC		0.0,0.3072,0.1022	benign	473/1089	28507806	13,12705	2116	4243	6359	28415307	SO:0001583	missense	55911	exon3			AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.1417C>T	16.37:g.28507806C>T	ENSP00000416094:p.Arg473Trp		28415307	NM_018690	H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	ENST00000431282.1	37		.	.	.	.	.	.	.	.	.	.	C	10.08	1.253162	0.22965	0.003072	0.0	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.60299	0.2;0.2	4.59	-8.23	0.01033	.	.	.	.	.	T	0.23766	0.0575	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.12811	-1.0533	9	0.45353	T	0.12	9.018	2.4883	0.04604	0.1963:0.2841:0.3587:0.1609	.	473;473	Q0VD83;Q9NS13	APOBR_HUMAN;.	W	473	ENSP00000327669:R473W;ENSP00000416094:R473W	ENSP00000327669:R473W	R	+	1	2	APOBR	28415307	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.379000	0.02554	-1.266000	0.02446	-2.503000	0.00190	CGG		0.642	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_182804	
HIRIP3	8479	broad.mit.edu	37	16	30005229	30005229	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr16:30005229T>C	ENST00000279392.3	-	4	2067	c.1237A>G	c.(1237-1239)Aag>Gag	p.K413E	INO80E_ENST00000567254.1_5'Flank|INO80E_ENST00000567705.1_5'Flank|INO80E_ENST00000563197.1_5'Flank|HIRIP3_ENST00000566471.1_5'Flank|HIRIP3_ENST00000564026.1_Intron|INO80E_ENST00000304516.7_5'Flank	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	413					chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)		p.K413E(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						ACCCTCACCTTCCCTCCTTTG	0.597																																					p.K413E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1237G	16						.						45.0	44.0	44.0					16																	30005229		2197	4300	6497	29912730	SO:0001583	missense	8479	exon4			AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"""HIRA-interacting protein 3"""			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118	ENST00000279392.3:c.1237A>G	16.37:g.30005229T>C	ENSP00000279392:p.Lys413Glu		29912730	NM_003609	H3BSR3|O75707|O75708	Missense_Mutation	SNP	ENST00000279392.3	37	CCDS10664.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.691417	0.88735	.	.	ENSG00000149929	ENST00000279392	T	0.35236	1.32	5.55	5.55	0.83447	.	0.137898	0.48286	D	0.000188	T	0.54886	0.1886	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.51348	-0.8717	10	0.30854	T	0.27	-33.3615	13.6407	0.62249	0.0:0.0:0.0:1.0	.	413	Q9BW71	HIRP3_HUMAN	E	413	ENSP00000279392:K413E	ENSP00000279392:K413E	K	-	1	0	HIRIP3	29912730	0.985000	0.35326	0.984000	0.44739	0.934000	0.57294	2.051000	0.41307	2.110000	0.64415	0.533000	0.62120	AAG		0.597	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	NM_003609	
FAM57B	83723	broad.mit.edu	37	16	30038112	30038112	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr16:30038112C>T	ENST00000380495.4	-	3	993	c.262G>A	c.(262-264)Gac>Aac	p.D88N	FAM57B_ENST00000564806.1_Missense_Mutation_p.D38N|FAM57B_ENST00000279389.4_Missense_Mutation_p.D38N	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	88	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|negative regulation of fat cell differentiation (GO:0045599)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sphingosine N-acyltransferase activity (GO:0050291)	p.D88N(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GCGTAGATGTCGTAGATGAAG	0.612																																					p.D88N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G262A	16						.						109.0	82.0	91.0					16																	30038112		2197	4300	6497	29945613	SO:0001583	missense	83723	exon3			AF370365	CCDS10667.2	16p11.2	2013-02-19			ENSG00000149926	ENSG00000149926			25295	protein-coding gene	gene with protein product		615175				11230166, 23275342	Standard	NM_031478		Approved	DKFZP434I2117	uc002dvt.3	Q71RH2	OTTHUMG00000132105	ENST00000380495.4:c.262G>A	16.37:g.30038112C>T	ENSP00000369863:p.Asp88Asn		29945613	NM_031478	Q9H0J1	Missense_Mutation	SNP	ENST00000380495.4	37	CCDS10667.2	.	.	.	.	.	.	.	.	.	.	C	36	5.776953	0.96929	.	.	ENSG00000149926	ENST00000380495	D	0.89485	-2.52	5.83	5.83	0.93111	TRAM/LAG1/CLN8 homology domain (3);	0.000000	0.85682	D	0.000000	D	0.95404	0.8508	M	0.86864	2.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95507	0.8582	10	0.72032	D	0.01	-2.6299	18.8867	0.92381	0.0:1.0:0.0:0.0	.	88;88	F1T0F5;Q71RH2	.;FA57B_HUMAN	N	88	ENSP00000369863:D88N	ENSP00000369863:D88N	D	-	1	0	FAM57B	29945613	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	7.466000	0.80914	2.750000	0.94351	0.655000	0.94253	GAC		0.612	FAM57B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255142.2	NM_031478	
GDPD3	79153	broad.mit.edu	37	16	30123673	30123673	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr16:30123673G>T	ENST00000406256.3	-	5	814	c.437C>A	c.(436-438)cCc>cAc	p.P146H	MAPK3_ENST00000494643.1_5'Flank|RP11-455F5.4_ENST00000566190.1_RNA	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	146	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)	p.P146H(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						TACGCTCATGGGTGTCCTTGG	0.627											OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P146H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C437A	16						.						98.0	90.0	93.0					16																	30123673		2197	4300	6497	30031174	SO:0001583	missense	79153	exon5			AK026256	CCDS10671.2	16p11.2	2008-02-05			ENSG00000102886	ENSG00000102886			28638	protein-coding gene	gene with protein product							Standard	NM_024307		Approved	MGC4171	uc002dwp.3	Q7L5L3	OTTHUMG00000132106	ENST00000406256.3:c.437C>A	16.37:g.30123673G>T	ENSP00000384363:p.Pro146His	814	30031174	NM_024307	Q9H652	Missense_Mutation	SNP	ENST00000406256.3	37	CCDS10671.2	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559056	0.65538	.	.	ENSG00000102886	ENST00000406256;ENST00000360688	T	0.34275	1.37	5.79	5.79	0.91817	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.052588	0.85682	D	0.000000	T	0.57770	0.2076	M	0.69358	2.11	0.52501	D	0.999956	D	0.89917	1.0	D	0.85130	0.997	T	0.51301	-0.8723	10	0.32370	T	0.25	.	15.5223	0.75875	0.0:0.0:1.0:0.0	.	146	Q7L5L3	GDPD3_HUMAN	H	146;84	ENSP00000384363:P146H	ENSP00000353909:P84H	P	-	2	0	GDPD3	30031174	1.000000	0.71417	0.966000	0.40874	0.090000	0.18270	6.958000	0.76025	2.726000	0.93360	0.655000	0.94253	CCC		0.627	GDPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255144.1	NM_024307	
SRCAP	10847	broad.mit.edu	37	16	30719000	30719000	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr16:30719000G>T	ENST00000262518.4	+	6	985	c.600G>T	c.(598-600)aaG>aaT	p.K200N	SRCAP_ENST00000344771.4_Missense_Mutation_p.K200N|SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000395059.2_Missense_Mutation_p.K200N	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	200					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.K200N(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCATGGCCAAGGATGTCAGGC	0.567																																					p.K200N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G600T	16						.						163.0	112.0	129.0					16																	30719000		2197	4300	6497	30626501	SO:0001583	missense	10847	exon6			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.600G>T	16.37:g.30719000G>T	ENSP00000262518:p.Lys200Asn		30626501	NM_006662	B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	12.20	1.866151	0.32977	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.93247	-3.19;-3.17;-3.19	5.29	1.1	0.20463	.	0.000000	0.53938	D	0.000046	D	0.94046	0.8092	M	0.64404	1.975	0.44085	D	0.996843	D;D	0.63880	0.992;0.993	P;P	0.61592	0.891;0.78	D	0.91900	0.5531	10	0.72032	D	0.01	-13.7779	8.3323	0.32193	0.4348:0.0:0.5651:0.0	.	200;200	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	N	200	ENSP00000262518:K200N;ENSP00000378499:K200N;ENSP00000343042:K200N	ENSP00000262518:K200N	K	+	3	2	SRCAP	30626501	0.999000	0.42202	0.998000	0.56505	0.989000	0.77384	0.516000	0.22817	0.074000	0.16767	0.561000	0.74099	AAG		0.567	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662	
ITGAD	3681	broad.mit.edu	37	16	31429512	31429512	+	Splice_Site	SNP	C	C	T	rs145843729		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr16:31429512C>T	ENST00000389202.2	+	21	2665	c.2616C>T	c.(2614-2616)aaC>aaT	p.N872N		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	872					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.N872N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AGGGCTCTAACGTCAGTGCTT	0.557																																					p.N872N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2616T	16						.	C		1,4393	2.1+/-5.4	0,1,2196	155.0	144.0	148.0		2616	2.0	0.1	16	dbSNP_134	148	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous-near-splice	ITGAD	NM_005353.2		0,2,6495	TT,TC,CC		0.0116,0.0228,0.0154		872/1162	31429512	2,12992	2197	4300	6497	31337013	SO:0001630	splice_region_variant	3681	exon21			U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2616+1C>T	16.37:g.31429512C>T			31337013	NM_005353	Q15575|Q15576	Silent	SNP	ENST00000389202.2	37	CCDS32438.1																																																																																				0.557	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353	Silent
NETO2	81831	broad.mit.edu	37	16	47120189	47120189	+	Silent	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr16:47120189G>A	ENST00000562435.1	-	8	1329	c.945C>T	c.(943-945)gtC>gtT	p.V315V	NETO2_ENST00000303155.5_Silent_p.V308V	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	315	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				regulation of kainate selective glutamate receptor activity (GO:2000312)	kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)		p.V315V(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				CACCATTACAGACTAAAGAAT	0.408										HNSCC(25;0.065)																											p.V315V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C945T	16						.						105.0	100.0	102.0					16																	47120189		2203	4300	6503	45677690	SO:0001819	synonymous_variant	81831	exon8			AK001292	CCDS10727.1, CCDS58460.1	16q11.2	2008-08-04			ENSG00000171208	ENSG00000171208			14644	protein-coding gene	gene with protein product		607974				11943477	Standard	NM_018092		Approved	FLJ10430, NEOT2	uc002eer.2	Q8NC67	OTTHUMG00000133101	ENST00000562435.1:c.945C>T	16.37:g.47120189G>A			45677690	NM_018092	J3KNF1|Q7Z381|Q8ND51|Q96SP4|Q9NVY8	Silent	SNP	ENST00000562435.1	37	CCDS10727.1																																																																																				0.408	NETO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256766.2	NM_018092	
ADCY7	113	broad.mit.edu	37	16	50325727	50325727	+	Silent	SNP	C	C	T	rs76036241	byFrequency	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr16:50325727C>T	ENST00000394697.2	+	4	796	c.456C>T	c.(454-456)gcC>gcT	p.A152A	ADCY7_ENST00000564044.1_Intron|ADCY7_ENST00000537579.1_Silent_p.A152A|ADCY7_ENST00000538642.1_Silent_p.A152A|ADCY7_ENST00000254235.3_Silent_p.A152A|ADCY7_ENST00000566433.2_Silent_p.A152A			P51828	ADCY7_HUMAN	adenylate cyclase 7	152					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|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)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.A152A(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		CCGTTGGGGCCGTCTCCACTG	0.622													C|||	3	0.000599042	0.0	0.0	5008	,	,		18222	0.003		0.0	False		,,,				2504	0.0				p.A152A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C456T	16						.	C		1,4395	2.1+/-5.4	0,1,2197	89.0	82.0	84.0		456	-2.7	0.0	16	dbSNP_131	84	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADCY7	NM_001114.3		0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154		152/1081	50325727	2,12994	2198	4300	6498	48883228	SO:0001819	synonymous_variant	113	exon3			D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.456C>T	16.37:g.50325727C>T			48883228	NM_001114	A0AVA6	Silent	SNP	ENST00000394697.2	37	CCDS10741.1																																																																																				0.622	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3		
GPR97	222487	broad.mit.edu	37	16	57713181	57713181	+	Silent	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr16:57713181T>C	ENST00000333493.4	+	5	746	c.585T>C	c.(583-585)gcT>gcC	p.A195A	GPR97_ENST00000450388.3_Silent_p.A75A|RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000327655.6_5'UTR	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	195					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A195A(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCAAGCTGGCTGAGCCTCTGG	0.637																																					p.A195A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T585C	16						.						140.0	128.0	132.0					16																	57713181		2198	4300	6498	56270682	SO:0001819	synonymous_variant	222487	exon5			AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"""-"", ""GPCR / Class B : Orphans"""	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.585T>C	16.37:g.57713181T>C			56270682	NM_170776	Q6ZMF4|Q86SL9|Q8IZF1	Silent	SNP	ENST00000333493.4	37	CCDS10786.1																																																																																				0.637	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257333.2	NM_170776	
CDH11	1009	broad.mit.edu	37	16	64981515	64981515	+	Silent	SNP	G	G	A	rs377222713		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr16:64981515G>A	ENST00000268603.4	-	13	2997	c.2382C>T	c.(2380-2382)gaC>gaT	p.D794D	CDH11_ENST00000566827.1_Silent_p.D668D|CDH11_ENST00000394156.3_3'UTR	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	794					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D794D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GTTAAGAATCGTCATCAAAAG	0.368			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			G|||	1	0.000199681	0.0	0.0	5008	,	,		18753	0.0		0.0	False		,,,				2504	0.001				p.D794D			Dom	yes		16	16q22.1	1009	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""		M	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2382T	16						.	G		0,4406		0,0,2203	79.0	76.0	77.0		2382	0.2	1.0	16		77	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CDH11	NM_001797.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		794/797	64981515	1,13005	2203	4300	6503	63539016	SO:0001819	synonymous_variant	1009	exon13			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.2382C>T	16.37:g.64981515G>A			63539016	NM_001797	A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Silent	SNP	ENST00000268603.4	37	CCDS10803.1																																																																																				0.368	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664	
CDH16	1014	broad.mit.edu	37	16	66946006	66946006	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr16:66946006A>G	ENST00000299752.4	-	13	1779	c.1586T>C	c.(1585-1587)gTg>gCg	p.V529A	CDH16_ENST00000565796.1_Missense_Mutation_p.V529A|CDH16_ENST00000394055.3_Missense_Mutation_p.V529A|CDH16_ENST00000570262.1_Missense_Mutation_p.V449A|CDH16_ENST00000568632.1_Missense_Mutation_p.V432A	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	529	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.V529A(1)		endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CACCACCACCACCACCTCATG	0.642																																					p.V529A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1586C	16						.						45.0	44.0	44.0					16																	66946006		2200	4300	6500	65503507	SO:0001583	missense	1014	exon13			AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.1586T>C	16.37:g.66946006A>G	ENSP00000299752:p.Val529Ala		65503507	NM_004062	B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	A	13.93	2.384683	0.42308	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.52526	0.66;0.66	5.07	5.07	0.68467	Cadherin (4);Cadherin-like (1);	0.074361	0.53938	D	0.000050	T	0.65709	0.2717	M	0.76574	2.34	0.45621	D	0.998556	D;D;D	0.89917	0.997;0.999;1.0	D;D;D	0.87578	0.921;0.994;0.998	T	0.65401	-0.6177	10	0.35671	T	0.21	-8.8008	11.509	0.50483	1.0:0.0:0.0:0.0	.	529;529;529	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	A	529;529;493	ENSP00000377619:V529A;ENSP00000299752:V529A	ENSP00000299752:V529A	V	-	2	0	CDH16	65503507	0.912000	0.30974	0.993000	0.49108	0.047000	0.14425	2.918000	0.48829	2.044000	0.60594	0.379000	0.24179	GTG		0.642	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062	
CDH16	1014	broad.mit.edu	37	16	66947148	66947148	+	Missense_Mutation	SNP	C	C	T	rs558954232		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr16:66947148C>T	ENST00000299752.4	-	9	1133	c.940G>A	c.(940-942)Gag>Aag	p.E314K	CDH16_ENST00000565796.1_Missense_Mutation_p.E314K|CDH16_ENST00000394055.3_Missense_Mutation_p.E314K|CDH16_ENST00000570262.1_Missense_Mutation_p.E234K|CDH16_ENST00000568632.1_Missense_Mutation_p.E217K	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	314	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.E314K(1)		endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GCATAGTCCTCGCCATGGGAA	0.627																																					p.E314K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G940A	16						.						95.0	90.0	91.0					16																	66947148		2200	4300	6500	65504649	SO:0001583	missense	1014	exon9			AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.940G>A	16.37:g.66947148C>T	ENSP00000299752:p.Glu314Lys		65504649	NM_004062	B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	C	5.568	0.289669	0.10567	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.50813	0.73;0.73	5.29	4.11	0.48088	Cadherin (4);Cadherin-like (1);	0.286010	0.33834	N	0.004501	T	0.36138	0.0956	L	0.32530	0.975	0.28989	N	0.88816	D;D;P	0.63046	0.961;0.992;0.938	B;P;B	0.50570	0.387;0.644;0.403	T	0.26087	-1.0113	10	0.06494	T	0.89	-20.9856	6.737	0.23415	0.0:0.8461:0.0:0.1539	.	314;314;314	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	K	314;314;278	ENSP00000377619:E314K;ENSP00000299752:E314K	ENSP00000299752:E314K	E	-	1	0	CDH16	65504649	0.481000	0.25941	0.956000	0.39512	0.005000	0.04900	1.682000	0.37628	2.643000	0.89663	0.655000	0.94253	GAG		0.627	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062	
CTCF	10664	broad.mit.edu	37	16	67660580	67660580	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr16:67660580C>T	ENST00000264010.4	+	8	1924	c.1480C>T	c.(1480-1482)Cgc>Tgc	p.R494C	CTCF_ENST00000401394.1_Missense_Mutation_p.R166C	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	494					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R494C(1)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GAATGAGAAGCGCTTTAAGTG	0.453																																					p.R166C	Colon(175;1200 1966 6945 23069 27405)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C496T	16						.						127.0	105.0	113.0					16																	67660580		2198	4300	6498	66218081	SO:0001583	missense	10664	exon6			U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1480C>T	16.37:g.67660580C>T	ENSP00000264010:p.Arg494Cys		66218081	NM_001191022	B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	ENST00000264010.4	37	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.621698	0.87460	.	.	ENSG00000102974	ENST00000264010;ENST00000401394	T;T	0.18960	2.18;2.18	5.38	5.38	0.77491	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000003	T	0.28532	0.0706	L	0.38733	1.17	0.80722	D	1	D	0.65815	0.995	P	0.49829	0.623	T	0.01146	-1.1437	10	0.59425	D	0.04	-2.7564	19.4985	0.95083	0.0:1.0:0.0:0.0	.	494	P49711	CTCF_HUMAN	C	494;166	ENSP00000264010:R494C;ENSP00000384707:R166C	ENSP00000264010:R494C	R	+	1	0	CTCF	66218081	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.859000	0.62954	2.698000	0.92095	0.561000	0.74099	CGC		0.453	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565	
SMPD3	55512	broad.mit.edu	37	16	68405993	68405993	+	Missense_Mutation	SNP	A	A	C	rs200387992		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr16:68405993A>C	ENST00000219334.5	-	3	695	c.92T>G	c.(91-93)gTg>gGg	p.V31G	SMPD3_ENST00000566009.1_5'Flank|SMPD3_ENST00000563226.1_Missense_Mutation_p.V31G|SMPD3_ENST00000568373.1_Missense_Mutation_p.V31G	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	31					cell cycle (GO:0007049)|glycosphingolipid metabolic process (GO:0006687)|hematopoietic progenitor cell differentiation (GO:0002244)|peptide hormone secretion (GO:0030072)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	Golgi cis cisterna (GO:0000137)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)	p.V31G(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	GAGCCGGTCCACCAGCCAGTA	0.612																																					p.V31G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T92G	16						.						38.0	42.0	41.0					16																	68405993		2197	4299	6496	66963494	SO:0001583	missense	55512	exon3			AJ250460	CCDS10867.1	16q22.1	2008-02-05			ENSG00000103056	ENSG00000103056			14240	protein-coding gene	gene with protein product		605777				10823942	Standard	NM_018667		Approved	NSMASE2	uc002ewa.3	Q9NY59	OTTHUMG00000137559	ENST00000219334.5:c.92T>G	16.37:g.68405993A>C	ENSP00000219334:p.Val31Gly		66963494	NM_018667	B7ZL82|Q2M1S8	Missense_Mutation	SNP	ENST00000219334.5	37	CCDS10867.1	.	.	.	.	.	.	.	.	.	.	A	11.66	1.706045	0.30232	.	.	ENSG00000103056	ENST00000219334	T	0.59224	0.28	5.4	0.633	0.17712	.	1.219180	0.05408	N	0.541965	T	0.32734	0.0839	N	0.03608	-0.345	0.51012	D	0.999902	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.13872	-1.0493	10	0.48119	T	0.1	-0.0774	5.0244	0.14378	0.4733:0.1633:0.3634:0.0	.	31;31;31	B7ZL82;B7ZL84;Q9NY59	.;.;NSMA2_HUMAN	G	31	ENSP00000219334:V31G	ENSP00000219334:V31G	V	-	2	0	SMPD3	66963494	0.934000	0.31675	0.942000	0.38095	0.889000	0.51656	1.357000	0.34090	0.112000	0.17975	0.533000	0.62120	GTG		0.612	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268895.3	NM_018667	
ZNF19	7567	broad.mit.edu	37	16	71512841	71512841	+	Missense_Mutation	SNP	G	G	A	rs17857322		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr16:71512841G>A	ENST00000288177.5	-	4	356	c.101C>T	c.(100-102)gCc>gTc	p.A34V	ZNF19_ENST00000567225.1_Missense_Mutation_p.A34V|AC010547.9_ENST00000561908.1_Missense_Mutation_p.A34V|ZNF19_ENST00000564230.1_Missense_Mutation_p.A34V|ZNF19_ENST00000565637.1_5'UTR|ZNF19_ENST00000565100.2_Intron	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	34	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.			A -> V (in Ref. 3; AAH47091). {ECO:0000305}.	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.A34V(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)		GGCCCTCTGGGCAGGAGAAAG	0.512																																					p.A34V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C101T	16						.						132.0	130.0	131.0					16																	71512841		2198	4300	6498	70070342	SO:0001583	missense	7567	exon4			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.101C>T	16.37:g.71512841G>A	ENSP00000288177:p.Ala34Val		70070342	NM_006961	A8K895|Q86Y66|Q8NDE2|Q96M79|Q96NE5	Missense_Mutation	SNP	ENST00000288177.5	37	CCDS10901.1	.	.	.	.	.	.	.	.	.	.	G	8.866	0.948197	0.18356	.	.	ENSG00000157429	ENST00000288177	T	0.02498	4.27	3.0	2.02	0.26589	Krueppel-associated box (4);	0.535482	0.14120	N	0.340117	T	0.04452	0.0122	L	0.60957	1.885	0.09310	N	1	B	0.27882	0.192	B	0.29176	0.099	T	0.27365	-1.0076	10	0.48119	T	0.1	.	10.1971	0.43060	0.0:0.205:0.795:0.0	rs17857322;rs17857322	34	P17023	ZNF19_HUMAN	V	34	ENSP00000288177:A34V	ENSP00000288177:A34V	A	-	2	0	ZNF19	70070342	0.000000	0.05858	0.034000	0.17996	0.100000	0.18952	0.258000	0.18387	0.808000	0.34231	0.563000	0.77884	GCC		0.512	ZNF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268993.2	NM_006961	
CHST4	10164	broad.mit.edu	37	16	71571273	71571273	+	Silent	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr16:71571273G>A	ENST00000338482.5	+	3	1036	c.693G>A	c.(691-693)caG>caA	p.Q231Q	RP11-510M2.5_ENST00000568523.1_RNA|ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000539698.3_Silent_p.Q231Q|CHST4_ENST00000572450.1_Silent_p.Q231Q			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	231					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.Q231Q(1)		cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						TGATGGGGCAGCATGAGCAAA	0.547											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Q231Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G693A	16						.						83.0	70.0	75.0					16																	71571273		2198	4300	6498	70128774	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.693G>A	16.37:g.71571273G>A		1131	70128774	NM_001166395	Q8IV46|Q9Y5R3	Silent	SNP	ENST00000338482.5	37	CCDS10902.1																																																																																				0.547	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268992.4	NM_005769	
PKD1L2	114780	broad.mit.edu	37	16	81185424	81185425	+	RNA	DNP	CG	CG	GC			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	CG	CG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr16:81185424_81185425CG>GC	ENST00000525539.1	-	0	4499_4500				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)	p.C1500>?(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TTATCGAGGACGCAATCTCCAA	0.46																																					.												.	.	1	Complex(1)	large_intestine(1)	c.4500_4501GC	16						.																																			79742926			114780	exon27			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126	ENST00000525539.1:c.4500_4501delinsGC	16.37:g.81185424_81185425delinsGC			79742925	NM_052892	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	DNP	ENST00000525539.1	37																																																																																					0.460	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2		
METTL22	79091	broad.mit.edu	37	16	8736010	8736010	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr16:8736010C>T	ENST00000381920.3	+	8	1111	c.853C>T	c.(853-855)Caa>Taa	p.Q285*	METTL22_ENST00000561758.1_Nonsense_Mutation_p.Q229*|METTL22_ENST00000568967.1_3'UTR	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN	methyltransferase like 22	285						nucleus (GO:0005634)	methyltransferase activity (GO:0008168)	p.Q285*(1)		large_intestine(5)|lung(4)	9						CAGTTGGTCACAAGAGGAAAT	0.483																																					p.Q285X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C853T	16						.						120.0	117.0	118.0					16																	8736010		1948	4155	6103	8643511	SO:0001587	stop_gained	79091	exon8			AK022495	CCDS10533.2	16p13.2	2014-07-15	2011-03-03	2011-03-03	ENSG00000067365	ENSG00000067365			28368	protein-coding gene	gene with protein product		615261	"""chromosome 16 open reading frame 68"""	C16orf68		24140279	Standard	XM_005255570		Approved	FLJ12433,MGC2654	uc002cyz.3	Q9BUU2	OTTHUMG00000129694	ENST00000381920.3:c.853C>T	16.37:g.8736010C>T	ENSP00000371345:p.Gln285*		8643511	NM_024109	B2RD29|D3DUF2|Q6XYB4|Q9HA03	Nonsense_Mutation	SNP	ENST00000381920.3	37	CCDS10533.2	.	.	.	.	.	.	.	.	.	.	C	11.56	1.676434	0.29783	.	.	ENSG00000067365	ENST00000381920	.	.	.	4.89	2.9	0.33743	.	0.195536	0.41823	D	0.000816	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-16.1861	11.6044	0.51024	0.0:0.3981:0.6019:0.0	.	.	.	.	X	285	.	ENSP00000371345:Q285X	Q	+	1	0	METTL22	8643511	0.993000	0.37304	0.579000	0.28588	0.225000	0.24961	2.170000	0.42443	0.459000	0.27016	-0.165000	0.13383	CAA		0.483	METTL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251901.1	NM_024109	
ABAT	18	broad.mit.edu	37	16	8851628	8851628	+	Missense_Mutation	SNP	G	G	A	rs150783272		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr16:8851628G>A	ENST00000396600.2	+	6	1269	c.331G>A	c.(331-333)Gcc>Acc	p.A111T	ABAT_ENST00000569156.1_Missense_Mutation_p.A111T|ABAT_ENST00000567812.1_Missense_Mutation_p.A126T|ABAT_ENST00000268251.8_Missense_Mutation_p.A111T|ABAT_ENST00000425191.2_Missense_Mutation_p.A111T	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	111					behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	(S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145)	p.A111T(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	CAGCCACCCCGCCCTGCTGAA	0.522																																					p.A111T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G331A	16						.	G	THR/ALA,THR/ALA,THR/ALA	0,4394		0,0,2197	124.0	102.0	109.0		331,331,331	5.0	0.9	16	dbSNP_134	109	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ABAT	NM_000663.4,NM_001127448.1,NM_020686.5	58,58,58	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	111/501,111/501,111/501	8851628	1,12993	2197	4300	6497	8759129	SO:0001583	missense	18	exon6			L32961	CCDS10534.1	16p13.2	2011-01-10			ENSG00000183044	ENSG00000183044	2.6.1.19		23	protein-coding gene	gene with protein product	"""4-aminobutyrate transaminase"""	137150				7721088	Standard	NM_020686		Approved	GABAT	uc002czc.4	P80404	OTTHUMG00000048201	ENST00000396600.2:c.331G>A	16.37:g.8851628G>A	ENSP00000379845:p.Ala111Thr		8759129	NM_000663	A8K386|Q16260|Q8N5W2|Q96BG2|Q99800	Missense_Mutation	SNP	ENST00000396600.2	37	CCDS10534.1	.	.	.	.	.	.	.	.	.	.	G	8.976	0.974263	0.18736	0.0	1.16E-4	ENSG00000183044	ENST00000268251;ENST00000396600;ENST00000425191	D;D;D	0.86432	-2.12;-2.12;-2.12	4.96	4.96	0.65561	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.052532	0.85682	D	0.000000	T	0.76248	0.3961	L	0.39692	1.235	0.58432	D	0.999995	P	0.37955	0.612	B	0.25140	0.058	T	0.73911	-0.3833	10	0.14252	T	0.57	-6.2296	10.948	0.47312	0.0:0.0:0.8132:0.1868	.	111	P80404	GABT_HUMAN	T	111	ENSP00000268251:A111T;ENSP00000379845:A111T;ENSP00000411916:A111T	ENSP00000268251:A111T	A	+	1	0	ABAT	8759129	1.000000	0.71417	0.916000	0.36221	0.079000	0.17450	6.033000	0.70925	2.312000	0.78011	0.561000	0.74099	GCC		0.522	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433620.2	NM_020686	
MBTPS1	8720	broad.mit.edu	37	16	84101378	84101378	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr16:84101378C>T	ENST00000343411.3	-	16	2617	c.2122G>A	c.(2122-2124)Gcc>Acc	p.A708T	MBTPS1_ENST00000569770.1_5'Flank	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	708					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.A708T(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CGGAGCTTGGCGATCTCTTCA	0.478																																					p.A708T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2122A	16						.						107.0	90.0	96.0					16																	84101378		2200	4300	6500	82658879	SO:0001583	missense	8720	exon16			D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.2122G>A	16.37:g.84101378C>T	ENSP00000344223:p.Ala708Thr		82658879	NM_003791	A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	ENST00000343411.3	37	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	C	2.511	-0.312897	0.05422	.	.	ENSG00000140943	ENST00000343411;ENST00000347334	T	0.30448	1.53	5.91	0.121	0.14695	.	0.237529	0.49305	N	0.000147	T	0.11836	0.0288	N	0.11698	0.16	0.22858	N	0.998646	B	0.02656	0.0	B	0.01281	0.0	T	0.24584	-1.0156	10	0.13470	T	0.59	-11.951	4.5033	0.11874	0.1648:0.2895:0.0:0.5457	.	708	Q14703	MBTP1_HUMAN	T	708;153	ENSP00000344223:A708T	ENSP00000344223:A708T	A	-	1	0	MBTPS1	82658879	0.976000	0.34144	0.161000	0.22692	0.036000	0.12997	1.692000	0.37731	0.131000	0.18576	-1.105000	0.02106	GCC		0.478	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791	
HCFC1R1	54985	broad.mit.edu	37	16	3073266	3073266	+	Frame_Shift_Del	DEL	G	G	-	rs548084088		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr16:3073266delG	ENST00000248089.3	-	3	553	c.249delC	c.(247-249)cccfs	p.P83fs	HCFC1R1_ENST00000572355.1_Frame_Shift_Del_p.P43fs|THOC6_ENST00000574549.1_5'Flank|THOC6_ENST00000326266.8_5'Flank|HCFC1R1_ENST00000574151.1_Frame_Shift_Del_p.P64fs|HCFC1R1_ENST00000574980.1_Frame_Shift_Del_p.P83fs|HCFC1R1_ENST00000396916.1_Frame_Shift_Del_p.P83fs|THOC6_ENST00000253952.9_5'Flank|THOC6_ENST00000575576.1_5'Flank|HCFC1R1_ENST00000354679.3_Frame_Shift_Del_p.P81fs	NM_017885.2	NP_060355.1	Q9NWW0	HPIP_HUMAN	host cell factor C1 regulator 1 (XPO1 dependent)	83						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.M65fs*1(1)		breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3						AGAAGGTCATGGGGGGGCTGC	0.617																																					p.P83fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.249delC	16						.						54.0	60.0	58.0					16																	3073266		2198	4300	6498	3013267	SO:0001589	frameshift_variant	54985	exon3			AK000575	CCDS10490.1, CCDS32375.1, CCDS73815.1	16p13.3	2008-02-05	2005-12-01			ENSG00000103145			21198	protein-coding gene	gene with protein product			"""host cell factor C1 regulator 1 (XPO1 dependant)"""			12235138	Standard	NM_001002018		Approved	HPIP, FLJ20568	uc002csy.1	Q9NWW0		ENST00000248089.3:c.249delC	16.37:g.3073266delG	ENSP00000248089:p.Pro83fs		3013267	NM_017885	D3DUA7|Q68EN7	Frame_Shift_Del	DEL	ENST00000248089.3	37	CCDS10490.1																																																																																				0.617	HCFC1R1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000436969.1	NM_017885	
NDRG4	65009	broad.mit.edu	37	16	58537861	58537861	+	Intron	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr16:58537861G>A	ENST00000570248.1	+	2	233				NDRG4_ENST00000394282.4_Intron|NDRG4_ENST00000562999.1_Intron|NDRG4_ENST00000566192.1_Intron|NDRG4_ENST00000394279.2_Intron|NDRG4_ENST00000258187.5_Intron|NDRG4_ENST00000356752.4_Intron|NDRG4_ENST00000563022.1_3'UTR|NDRG4_ENST00000568640.1_Intron|NDRG4_ENST00000563799.1_Splice_Site_p.D61N|NDRG4_ENST00000569923.1_Intron	NM_001242835.1	NP_001229764.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4						cell differentiation (GO:0030154)|cell growth (GO:0016049)|response to stress (GO:0006950)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						CAGCCAGAGCGGTGAGGCCCC	0.672																																					.												.	.	0			.	16						.																																			57095362	SO:0001627	intron_variant	65009	.			AB044947	CCDS10797.1, CCDS45500.1, CCDS55999.1, CCDS58465.1, CCDS58466.1, CCDS58467.1	16q21-q22.3	2008-07-04			ENSG00000103034	ENSG00000103034			14466	protein-coding gene	gene with protein product		614463				11352569, 16408304	Standard	NM_020465		Approved	KIAA1180, SMAP-8	uc002enk.3	Q9ULP0	OTTHUMG00000133485	ENST00000570248.1:c.127+54G>A	16.37:g.58537861G>A			57095362	.	B3KNU2|B4DK66|B4DSW5|H7C600|Q6ZNE7|Q6ZTI7|Q96PL9|Q9GZM1|Q9GZN3|Q9GZX0	Missense_Mutation	SNP	ENST00000570248.1	37	CCDS58466.1																																																																																				0.672	NDRG4-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422671.2		
GAS8	2622	broad.mit.edu	37	16	90099309	90099309	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr16:90099309G>A	ENST00000268699.4	+	4	594	c.472G>A	c.(472-474)Gtg>Atg	p.V158M	C16orf3_ENST00000408886.2_5'Flank|GAS8_ENST00000540721.1_3'UTR|GAS8_ENST00000536122.1_Missense_Mutation_p.V133M	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	158	Microtubule-binding.				cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)		p.V158M(1)		endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		GGCCAGTGAGGTGGTGGTGAA	0.597																																					p.V158M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G472A	16						.						76.0	64.0	68.0					16																	90099309		2198	4300	6498	88626810	SO:0001583	missense	2622	exon4			AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.472G>A	16.37:g.90099309G>A	ENSP00000268699:p.Val158Met		88626810	NM_001481	B2RCT1|B7Z4U1|G3V1L5|Q2M234	De_novo_Start_OutOfFrame	SNP	ENST00000268699.4	37	CCDS10992.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.325219	0.41197	.	.	ENSG00000141013	ENST00000536122;ENST00000268699;ENST00000540721;ENST00000537797	T;T	0.29655	1.56;1.56	5.82	4.86	0.63082	.	0.228774	0.44688	D	0.000421	T	0.15478	0.0373	N	0.16098	0.37	0.35872	D	0.828313	B;B;B;B	0.27229	0.101;0.131;0.141;0.172	B;B;B;B	0.23150	0.013;0.022;0.044;0.03	T	0.20605	-1.0270	9	.	.	.	-39.3992	7.4931	0.27473	0.1408:0.1423:0.7169:0.0	.	129;75;158;158	B7Z1X3;Q68D98;B7Z9B0;O95995	.;.;.;GAS8_HUMAN	M	133;158;129;158	ENSP00000440977:V133M;ENSP00000268699:V158M	.	V	+	1	0	GAS8	88626810	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	2.704000	0.47118	1.465000	0.48006	0.650000	0.86243	GTG		0.597	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2		
PSMC3IP	29893	broad.mit.edu	37	17	40725368	40725369	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr17:40725368_40725369insCT	ENST00000393795.3	-	6	605_606	c.497_498insAG	c.(496-498)aggfs	p.R166fs	PSMC3IP_ENST00000587209.1_Frame_Shift_Ins_p.R103fs|PSMC3IP_ENST00000253789.5_Frame_Shift_Ins_p.R154fs|PSMC3IP_ENST00000590760.1_Frame_Shift_Ins_p.R41fs	NM_001256015.1|NM_001256016.1|NM_016556.3	NP_001242944.1|NP_001242945.1|NP_057640.1	Q9P2W1	HOP2_HUMAN	PSMC3 interacting protein	166	DNA binding. {ECO:0000250}.				DNA recombination (GO:0006310)|meiotic nuclear division (GO:0007126)|regulation of RNA biosynthetic process (GO:2001141)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.Q155fs*39(1)		endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(2)	7		all_cancers(22;0.00426)|Breast(137;0.00116)|all_epithelial(22;0.0395)		BRCA - Breast invasive adenocarcinoma(366;0.13)		AGTACTTCTGCCTCTCTCTGTA	0.545																																					p.R154fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.462_463insAG	17						.																																			37978895	SO:0001589	frameshift_variant	29893	exon6			AB030304, NM_013290, BC008792	CCDS11431.1, CCDS45688.1, CCDS59289.1	17q21.2	2012-04-10				ENSG00000131470		"""Proteasome (prosome, macropain) subunits"""	17928	protein-coding gene	gene with protein product	"""TBP-1 interacting protein"""	608665				7490091, 10806355, 11739747	Standard	NM_016556		Approved	TBPIP, GT198, HUMGT198A	uc002iai.3	Q9P2W1		ENST00000393795.3:c.496_497dupAG	17.37:g.40725375_40725376dupCT	ENSP00000377384:p.Arg166fs		37978894	NM_013290	C5ILB7|Q14458|Q8WXG2|Q96HA2	Frame_Shift_Ins	INS	ENST00000393795.3	37	CCDS45688.1																																																																																				0.545	PSMC3IP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450427.1	NM_013290	
TBC1D16	125058	broad.mit.edu	37	17	77923624	77923625	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr17:77923624_77923625insC	ENST00000310924.2	-	7	1412_1413	c.1297_1298insG	c.(1297-1299)gagfs	p.E433fs	TBC1D16_ENST00000572862.1_Frame_Shift_Ins_p.E71fs|TBC1D16_ENST00000576768.1_Splice_Site|TBC1D16_ENST00000570373.1_Frame_Shift_Ins_p.E72fs|TBC1D16_ENST00000340848.7_Frame_Shift_Ins_p.E71fs	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	433	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)	p.E433fs*32(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GGGCCAGACCTCCCCGCGGATT	0.579																																					p.E433fs	Ovarian(14;397 562 4850 31922 49378)											.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1298_1299insG	17						.																																			75538220	SO:0001589	frameshift_variant	125058	exon7			AL157485	CCDS11766.1, CCDS62351.1, CCDS62352.1, CCDS62353.1	17q25.3	2013-07-10				ENSG00000167291			28356	protein-coding gene	gene with protein product						23019362	Standard	NM_019020		Approved	MGC25062, FLJ20748	uc002jxj.4	Q8TBP0		ENST00000310924.2:c.1298dupG	17.37:g.77923628_77923628dupC	ENSP00000309794:p.Glu433fs		75538219	NM_019020	B9A6L7|I3L1E0|I3L4U2|Q8N3Z4|Q96DH7	Frame_Shift_Ins	INS	ENST00000310924.2	37	CCDS11766.1																																																																																				0.579	TBC1D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437145.1	NM_019020	
MYH8	4626	broad.mit.edu	37	17	10310088	10310088	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr17:10310088C>A	ENST00000403437.2	-	19	2184	c.2090G>T	c.(2089-2091)aGg>aTg	p.R697M	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	697	Myosin motor.				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.R697M(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						ACCATTACACCTCAGCTGGTG	0.408									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																												p.R697M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2090T	17						.						84.0	79.0	80.0					17																	10310088		2203	4300	6503	10250813	SO:0001583	missense	4626	exon19	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.2090G>T	17.37:g.10310088C>A	ENSP00000384330:p.Arg697Met		10250813	NM_002472	Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.306304	0.81247	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.88818	-2.43	5.07	5.07	0.68467	Myosin head, motor domain (2);	0.000000	0.39615	U	0.001315	D	0.96386	0.8821	H	0.99425	4.56	0.58432	D	0.999996	B	0.34264	0.446	P	0.46885	0.53	D	0.97211	0.9871	10	0.87932	D	0	.	18.6502	0.91428	0.0:1.0:0.0:0.0	.	697	P13535	MYH8_HUMAN	M	697	ENSP00000384330:R697M	ENSP00000252173:R697M	R	-	2	0	MYH8	10250813	0.982000	0.34865	0.998000	0.56505	0.952000	0.60782	7.534000	0.82004	2.652000	0.90054	0.650000	0.86243	AGG		0.408	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472	
MAP2K4	6416	broad.mit.edu	37	17	11984750	11984750	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr17:11984750C>T	ENST00000353533.5	+	3	359	c.296C>T	c.(295-297)gCa>gTa	p.A99V	MAP2K4_ENST00000581941.1_3'UTR|MIR744_ENST00000578242.1_RNA|MAP2K4_ENST00000415385.3_Missense_Mutation_p.A110V	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	99					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.A99V(1)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		GATTTCACTGCAGAGGACTTG	0.423			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																p.A99V			Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	.	.	12	Whole gene deletion(10)|Substitution - Missense(1)|Unknown(1)	ovary(4)|breast(4)|large_intestine(2)|biliary_tract(1)|pancreas(1)	c.C296T	17						.						86.0	80.0	82.0					17																	11984750		2203	4300	6503	11925475	SO:0001583	missense	6416	exon3			L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.296C>T	17.37:g.11984750C>T	ENSP00000262445:p.Ala99Val		11925475	NM_003010	B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP	ENST00000353533.5	37	CCDS11162.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.750420	0.89753	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465	T;T	0.19806	2.12;2.12	5.27	5.27	0.74061	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.29945	0.0749	M	0.66939	2.045	0.80722	D	1	P;P	0.48294	0.908;0.738	B;B	0.42916	0.402;0.136	T	0.13575	-1.0504	10	0.87932	D	0	.	18.0133	0.89231	0.0:1.0:0.0:0.0	.	110;99	P45985-2;P45985	.;MP2K4_HUMAN	V	99;110;76	ENSP00000262445:A99V;ENSP00000410402:A110V	ENSP00000262445:A99V	A	+	2	0	MAP2K4	11925475	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.628000	0.89032	0.561000	0.74099	GCA		0.423	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1		
NCOR1	9611	broad.mit.edu	37	17	15935689	15935689	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr17:15935689T>C	ENST00000268712.3	-	46	7501	c.7244A>G	c.(7243-7245)cAa>cGa	p.Q2415R	NCOR1_ENST00000395851.1_Missense_Mutation_p.Q2312R|NCOR1_ENST00000395857.3_Missense_Mutation_p.Q999R	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2415	Interaction with C1D. {ECO:0000250}.				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.Q2415R(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)		CCTGTTCTGTTGGTGAGGAGC	0.547																																					p.Q2312R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A6935G	17						.						115.0	98.0	104.0					17																	15935689		2203	4300	6503	15876414	SO:0001583	missense	9611	exon45			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.7244A>G	17.37:g.15935689T>C	ENSP00000268712:p.Gln2415Arg		15876414	NM_001190440	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	T	12.94	2.089616	0.36855	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	T;T;T	0.46063	0.88;1.46;0.9	5.96	3.61	0.41365	.	0.249341	0.42053	D	0.000763	T	0.52581	0.1743	L	0.56769	1.78	0.40805	D	0.983373	P;P;D;P;P	0.69078	0.913;0.534;0.997;0.579;0.907	B;B;P;P;P	0.59012	0.445;0.142;0.85;0.45;0.555	T	0.56263	-0.8008	10	0.66056	D	0.02	-11.6492	10.1094	0.42552	0.0:0.0701:0.1649:0.7649	.	2318;2415;2312;934;428	E7EVK1;O75376;O75376-2;Q86YY1;Q86YY2	.;NCOR1_HUMAN;.;.;.	R	2415;2312;2318;999	ENSP00000268712:Q2415R;ENSP00000379192:Q2312R;ENSP00000379198:Q999R	ENSP00000268712:Q2415R	Q	-	2	0	NCOR1	15876414	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.730000	0.47335	1.088000	0.41272	0.533000	0.62120	CAA		0.547	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311	
TRPV2	51393	broad.mit.edu	37	17	16340123	16340123	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr17:16340123C>A	ENST00000338560.7	+	15	2614	c.2215C>A	c.(2215-2217)Ctg>Atg	p.L739M	C17orf76-AS1_ENST00000365172.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|TRPV2_ENST00000577397.1_Missense_Mutation_p.L309M|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000475953.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000483140.1_RNA	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	739					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)	p.L739M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GAACCCTGTCCTGGCTTCCCC	0.577																																					p.L739M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2215A	17						.						180.0	157.0	165.0					17																	16340123		2203	4300	6503	16280848	SO:0001583	missense	51393	exon15			AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.2215C>A	17.37:g.16340123C>A	ENSP00000342222:p.Leu739Met		16280848	NM_016113	A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	ENST00000338560.7	37	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	C	4.490	0.090767	0.08632	.	.	ENSG00000187688	ENST00000338560	D	0.88277	-2.36	3.36	-3.0	0.05480	.	1.459110	0.04381	N	0.360750	T	0.74442	0.3717	N	0.08118	0	0.09310	N	1	B	0.33379	0.41	B	0.32465	0.146	T	0.65113	-0.6247	10	0.32370	T	0.25	-16.4699	4.4128	0.11441	0.0:0.325:0.1762:0.4988	.	739	Q9Y5S1	TRPV2_HUMAN	M	739	ENSP00000342222:L739M	ENSP00000342222:L739M	L	+	1	2	TRPV2	16280848	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.023000	0.12456	-0.557000	0.06126	-0.291000	0.09656	CTG		0.577	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113	
FLII	2314	broad.mit.edu	37	17	18148869	18148869	+	Splice_Site	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr17:18148869C>A	ENST00000327031.4	-	28	3834	c.3609G>T	c.(3607-3609)gaG>gaT	p.E1203D	FLII_ENST00000579294.1_Splice_Site_p.E1192D|FLII_ENST00000578558.1_Intron|FLII_ENST00000545457.2_Splice_Site_p.E1148D|FLII_ENST00000379450.4_Splice_Site_p.E1117D	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	1203					multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)	p.E1203D(1)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					AACATCACACCTCTTGGCCAT	0.527																																					p.E1203D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3609T	17						.						178.0	158.0	165.0					17																	18148869		2203	4300	6503	18089594	SO:0001630	splice_region_variant	2314	exon28			U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"""flightless I (Drosophila) homolog"""			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.3609+1G>T	17.37:g.18148869C>A			18089594	NM_002018	B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	ENST00000327031.4	37	CCDS11192.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.762888	0.49574	.	.	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T	0.35048	1.33;1.33	5.42	3.41	0.39046	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	T	0.49949	0.1587	L	0.61036	1.89	0.58432	D	0.999999	D;D;B;P	0.67145	0.996;0.996;0.441;0.873	P;P;B;P	0.62885	0.908;0.908;0.243;0.688	T	0.38929	-0.9638	10	0.27785	T	0.31	-26.853	11.2363	0.48942	0.0:0.8488:0.0:0.1512	.	1117;1117;1203;1172	E7EPM0;B4DIL0;Q13045;B4DIX0	.;.;FLII_HUMAN;.	D	1203;1082;1117	ENSP00000324573:E1203D;ENSP00000368763:E1117D	ENSP00000324573:E1203D	E	-	3	2	FLII	18089594	1.000000	0.71417	1.000000	0.80357	0.090000	0.18270	1.895000	0.39778	0.639000	0.30564	0.655000	0.94253	GAG		0.527	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018	Missense_Mutation
TBC1D28	254272	broad.mit.edu	37	17	18541184	18541184	+	Missense_Mutation	SNP	C	C	T	rs372865587		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr17:18541184C>T	ENST00000345096.4	-	8	1189	c.490G>A	c.(490-492)Gga>Aga	p.G164R	TBC1D28_ENST00000405044.1_Missense_Mutation_p.G164R			Q2M2D7	TBC28_HUMAN	TBC1 domain family, member 28	164	Rab-GAP TBC.						Rab GTPase activator activity (GO:0005097)	p.G164R(1)		breast(1)|large_intestine(5)|lung(2)|ovary(1)	9						TACTTGACTCCGAATCTTTGT	0.547																																					p.G164R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G490A	17						.	C	ARG/GLY	0,4168		0,0,2084	56.0	63.0	60.0		490	-0.4	0.0	17		60	1,8385		0,1,4192	no	missense	TBC1D28	NM_001039397.2	125	0,1,6276	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging	164/211	18541184	1,12553	2084	4193	6277	18481909	SO:0001583	missense	254272	exon9				CCDS42273.1	17p11.2	2008-10-27			ENSG00000189375	ENSG00000189375			26858	protein-coding gene	gene with protein product							Standard	NM_001039397		Approved	FLJ40244	uc002gud.2	Q2M2D7	OTTHUMG00000059054	ENST00000345096.4:c.490G>A	17.37:g.18541184C>T	ENSP00000339973:p.Gly164Arg		18481909	NM_001039397	Q2M2E1	Missense_Mutation	SNP	ENST00000345096.4	37	CCDS42273.1	.	.	.	.	.	.	.	.	.	.	N	3.030	-0.199758	0.06219	0.0	1.19E-4	ENSG00000189375	ENST00000345096;ENST00000405044	T;T	0.37752	1.18;1.18	0.185	-0.371	0.12525	Rab-GAP/TBC domain (2);	0.065514	0.64402	N	0.000010	T	0.21550	0.0519	L	0.39147	1.195	0.09310	N	1	B	0.18968	0.032	B	0.17722	0.019	T	0.31613	-0.9937	9	0.49607	T	0.09	.	.	.	.	.	164	Q2M2D7	TBC28_HUMAN	R	164	ENSP00000339973:G164R;ENSP00000385821:G164R	ENSP00000339973:G164R	G	-	1	0	TBC1D28	18481909	0.645000	0.27286	0.000000	0.03702	0.000000	0.00434	0.062000	0.14389	-2.343000	0.00623	-2.367000	0.00236	GGA		0.547	TBC1D28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130672.2	NM_001039397	
FBXW10	10517	broad.mit.edu	37	17	18682306	18682306	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr17:18682306C>T	ENST00000395665.4	+	14	3075	c.2854C>T	c.(2854-2856)Cgc>Tgc	p.R952C	FBXW10_ENST00000308799.4_Missense_Mutation_p.R961C|TVP23B_ENST00000476139.1_5'Flank|TVP23B_ENST00000307767.8_5'Flank|FBXW10_ENST00000395667.1_Missense_Mutation_p.R951C|FBXW10_ENST00000301938.4_Missense_Mutation_p.R899C|TVP23B_ENST00000574226.1_5'Flank			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	952								p.R951C(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						TAAACCAAACCGCATGCTAGC	0.507																																					p.R951C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2851T	17						.						12.0	12.0	12.0					17																	18682306		2169	4207	6376	18623031	SO:0001583	missense	10517	exon14			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.2854C>T	17.37:g.18682306C>T	ENSP00000379025:p.Arg952Cys		18623031	NM_031456	C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	37	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	C	7.640	0.680758	0.14907	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	3.38	1.25	0.21368	.	0.538297	0.13574	U	0.377832	T	0.63522	0.2518	L	0.35854	1.095	0.09310	N	1	B;B;B;B	0.21309	0.022;0.054;0.013;0.054	B;B;B;B	0.14578	0.007;0.011;0.003;0.011	T	0.53655	-0.8408	10	0.54805	T	0.06	.	3.9841	0.09507	0.413:0.4654:0.0:0.1216	.	899;961;952;951	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	C	951;961;899;952	ENSP00000379026:R951C;ENSP00000310382:R961C;ENSP00000306937:R899C;ENSP00000379025:R952C	ENSP00000306937:R899C	R	+	1	0	FBXW10	18623031	0.001000	0.12720	0.019000	0.16419	0.772000	0.43724	1.342000	0.33919	0.113000	0.18004	0.411000	0.27672	CGC		0.507	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456	
MFAP4	4239	broad.mit.edu	37	17	19288728	19288728	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr17:19288728G>A	ENST00000299610.4	-	4	364	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C	MFAP4_ENST00000574313.2_5'Flank|MFAP4_ENST00000497081.2_Missense_Mutation_p.R119C|MFAP4_ENST00000395592.2_Missense_Mutation_p.R118C	NM_002404.2	NP_002395.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	94	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cellular response to UV-B (GO:0071493)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|regulation of collagen metabolic process (GO:0010712)|UV protection (GO:0009650)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)		p.R94C(1)		large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					TTCCAGCCGCGGAAGAAACTT	0.572																																					p.R118C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C352T	17						.						65.0	64.0	64.0					17																	19288728		2203	4300	6503	19229321	SO:0001583	missense	4239	exon4			L38486	CCDS11208.1, CCDS56023.1	17p11.2	2013-02-06			ENSG00000166482	ENSG00000166482		"""Fibrinogen C domain containing"""	7035	protein-coding gene	gene with protein product	"""microfibril-associated glycoprotein 4"""	600596				7633408	Standard	NM_001198695		Approved		uc002gvs.3	P55083	OTTHUMG00000059585	ENST00000299610.4:c.280C>T	17.37:g.19288728G>A	ENSP00000299610:p.Arg94Cys		19229321	NM_001198695	A8KAJ1|A8MVM2|B4E317|Q6P680	Missense_Mutation	SNP	ENST00000299610.4	37	CCDS11208.1	.	.	.	.	.	.	.	.	.	.	g	17.88	3.498390	0.64298	.	.	ENSG00000166482	ENST00000395592;ENST00000299610	T;T	0.32753	1.44;1.44	5.26	3.13	0.36017	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.56097	D	0.000034	T	0.67221	0.2870	H	0.97682	4.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.78969	-0.1994	10	0.87932	D	0	.	12.3263	0.55013	0.0:0.0:0.6837:0.3163	.	94;118	P55083;A8MVM2	MFAP4_HUMAN;.	C	118;94	ENSP00000378957:R118C;ENSP00000299610:R94C	ENSP00000299610:R94C	R	-	1	0	MFAP4	19229321	0.902000	0.30710	1.000000	0.80357	0.985000	0.73830	0.824000	0.27379	1.451000	0.47736	-0.332000	0.08345	CGC		0.572	MFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132493.2	NM_002404	
AKAP10	11216	broad.mit.edu	37	17	19839665	19839665	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr17:19839665C>A	ENST00000225737.6	-	9	1558	c.1401G>T	c.(1399-1401)agG>agT	p.R467S	AKAP10_ENST00000395536.3_Missense_Mutation_p.R467S	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	467	RGS 2. {ECO:0000255|PROSITE- ProRule:PRU00171}.				blood coagulation (GO:0007596)|protein localization (GO:0008104)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)		p.R467S(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					GCCCACCTTCCCTGCAGATAT	0.443																																					p.R467S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1401T	17						.						112.0	95.0	101.0					17																	19839665		2203	4300	6503	19780257	SO:0001583	missense	11216	exon9			AF037439	CCDS11214.1	17p11.1	2008-07-18			ENSG00000108599	ENSG00000108599		"""A-kinase anchor proteins"""	368	protein-coding gene	gene with protein product	"""dual-specificity A-kinase anchoring protein 2"", ""protein kinase A anchoring protein 10"", ""mitochondrial A kinase PPKA anchor protein 10"""	604694				9326583	Standard	NM_007202		Approved	D-AKAP2, PRKA10, MGC9414	uc002gwo.4	O43572	OTTHUMG00000059515	ENST00000225737.6:c.1401G>T	17.37:g.19839665C>A	ENSP00000225737:p.Arg467Ser		19780257	NM_007202	B2R650|Q96AJ7	Missense_Mutation	SNP	ENST00000225737.6	37	CCDS11214.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.173419	0.57584	.	.	ENSG00000108599	ENST00000225737;ENST00000395536	T	0.20881	2.04	5.39	2.36	0.29203	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.26702	0.0653	N	0.17723	0.515	0.45227	D	0.998238	D;D;D	0.89917	0.993;0.996;1.0	D;D;D	0.79784	0.936;0.937;0.993	T	0.01165	-1.1431	10	0.40728	T	0.16	-7.7721	9.924	0.41481	0.0:0.7788:0.0:0.2212	.	467;467;467	E7EMD6;Q2XPN4;O43572	.;.;AKA10_HUMAN	S	467	ENSP00000225737:R467S	ENSP00000225737:R467S	R	-	3	2	AKAP10	19780257	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.999000	0.29757	0.276000	0.22118	-0.424000	0.05967	AGG		0.443	AKAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132380.2	NM_007202	
PAFAH1B1	5048	broad.mit.edu	37	17	2570305	2570305	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr17:2570305A>G	ENST00000397195.5	+	5	663	c.212A>G	c.(211-213)aAg>aGg	p.K71R	PAFAH1B1_ENST00000572915.2_3'UTR	NM_000430.3	NP_000421.1			platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)									p.K71R(1)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						TTAGAATCAAAGCTAAATGAA	0.348																																					p.K71R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A212G	17						.						52.0	50.0	51.0					17																	2570305		2203	4300	6503	2517055	SO:0001583	missense	5048	exon5			L25107	CCDS32528.1	17p13.3	2014-04-04	2010-02-10		ENSG00000007168	ENSG00000007168		"""WD repeat domain containing"""	8574	protein-coding gene	gene with protein product	"""lissencephaly-1"""	601545	"""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)"", ""Miller-Dieker syndrome chromosome region"", ""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa"", ""platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)"""	MDCR, MDS		8355785, 9063735	Standard	NM_000430		Approved	LIS1, PAFAH	uc002fuw.4	P43034	OTTHUMG00000177574	ENST00000397195.5:c.212A>G	17.37:g.2570305A>G	ENSP00000380378:p.Lys71Arg		2517055	NM_000430		Missense_Mutation	SNP	ENST00000397195.5	37	CCDS32528.1	.	.	.	.	.	.	.	.	.	.	A	9.043	0.990203	0.18966	.	.	ENSG00000007168	ENST00000397195	D	0.82526	-1.62	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.68613	0.3020	N	0.16833	0.445	0.80722	D	1	B	0.10296	0.003	B	0.10450	0.005	T	0.63116	-0.6709	10	0.07813	T	0.8	.	13.9157	0.63895	1.0:0.0:0.0:0.0	.	71	P43034	LIS1_HUMAN	R	71	ENSP00000380378:K71R	ENSP00000380378:K71R	K	+	2	0	PAFAH1B1	2517055	1.000000	0.71417	0.997000	0.53966	0.911000	0.54048	9.251000	0.95483	1.942000	0.56320	0.477000	0.44152	AAG		0.348	PAFAH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437797.2	NM_000430	
PHF12	57649	broad.mit.edu	37	17	27235832	27235832	+	Silent	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr17:27235832G>A	ENST00000332830.4	-	12	3237	c.2427C>T	c.(2425-2427)aaC>aaT	p.N809N	PHF12_ENST00000577226.1_3'UTR|PHF12_ENST00000582655.1_5'Flank	NM_001033561.1	NP_001028733.1			PHD finger protein 12									p.N809N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GATAGCACATGTTCACAGCTC	0.517																																					p.N809N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2427T	17						.						106.0	83.0	91.0					17																	27235832		2203	4300	6503	24259958	SO:0001819	synonymous_variant	57649	exon12			AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.2427C>T	17.37:g.27235832G>A			24259958	NM_001033561		Silent	SNP	ENST00000332830.4	37	CCDS32598.1																																																																																				0.517	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889	
FAM101B	359845	broad.mit.edu	37	17	293147	293147	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr17:293147C>A	ENST00000329099.4	-	2	242	c.243G>T	c.(241-243)gaG>gaT	p.E81D		NM_182705.2	NP_874364.1	Q8N5W9	F101B_HUMAN	family with sequence similarity 101, member B	151					actin cytoskeleton organization (GO:0030036)|epithelial to mesenchymal transition (GO:0001837)	actin cytoskeleton (GO:0015629)	filamin binding (GO:0031005)	p.E81D(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)|urinary_tract(1)	13		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.0216)		CGAAGCGCACCTCGGCCTTGT	0.647																																					p.G82C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G244T	17						.						60.0	68.0	65.0					17																	293147		2173	4256	6429	293375	SO:0001583	missense	359845	exon2					17p13	2008-10-23			ENSG00000183688	ENSG00000183688			28705	protein-coding gene	gene with protein product		615928				12477932	Standard	NM_182705		Approved	MGC45871	uc002frj.3	Q8N5W9	OTTHUMG00000132483	ENST00000329099.4:c.243G>T	17.37:g.293147C>A	ENSP00000331915:p.Glu81Asp		293375	NM_182705		Missense_Mutation	SNP	ENST00000329099.4	37		.	.	.	.	.	.	.	.	.	.	C	15.66	2.899141	0.52227	.	.	ENSG00000183688	ENST00000329099	.	.	.	5.54	0.659	0.17861	.	0.094432	0.64402	D	0.000001	T	0.63920	0.2552	M	0.64997	1.995	0.38510	D	0.948453	D	0.89917	1.0	D	0.83275	0.996	T	0.70550	-0.4841	8	0.66056	D	0.02	-4.0E-4	8.5809	0.33628	0.0:0.5201:0.0:0.4799	.	151	Q8N5W9	F101B_HUMAN	D	81	.	ENSP00000331915:E81D	E	-	3	2	FAM101B	293375	0.997000	0.39634	0.996000	0.52242	0.233000	0.25261	0.573000	0.23699	0.346000	0.23899	-0.142000	0.14014	GAG		0.647	FAM101B-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255652.1	NM_182705	
UTP6	55813	broad.mit.edu	37	17	30222006	30222006	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr17:30222006T>A	ENST00000261708.4	-	3	339	c.202A>T	c.(202-204)Atc>Ttc	p.I68F	UTP6_ENST00000490218.2_5'UTR	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	68					rRNA processing (GO:0006364)	nucleolus (GO:0005730)		p.I68F(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				CTTCTCTGGATCAGCTCCAAA	0.303																																					p.I68F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A202T	17						.						70.0	57.0	61.0					17																	30222006		2200	4296	6496	27246119	SO:0001583	missense	55813	exon3			AF116631	CCDS11269.1	17q11.2	2010-06-24	2006-05-16	2006-05-16	ENSG00000108651	ENSG00000108651			18279	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated antigen 66"""		"""chromosome 17 open reading frame 40"""	C17orf40		10843809, 16138909	Standard	NM_018428		Approved	HCA66	uc002hgr.3	Q9NYH9	OTTHUMG00000132815	ENST00000261708.4:c.202A>T	17.37:g.30222006T>A	ENSP00000261708:p.Ile68Phe		27246119	NM_018428	Q8IX96|Q96BL2|Q9NQ91	Missense_Mutation	SNP	ENST00000261708.4	37	CCDS11269.1	.	.	.	.	.	.	.	.	.	.	T	18.84	3.709365	0.68615	.	.	ENSG00000108651	ENST00000261708	T	0.32515	1.45	5.1	5.1	0.69264	U3 small nucleolar RNA-associated protein 6 (1);	0.149634	0.64402	D	0.000015	T	0.52256	0.1723	M	0.67953	2.075	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72625	0.973;0.978	T	0.54309	-0.8313	10	0.56958	D	0.05	-10.0123	13.4013	0.60885	0.0:0.0:0.0:1.0	.	68;68	B4DSL9;Q9NYH9	.;UTP6_HUMAN	F	68	ENSP00000261708:I68F	ENSP00000261708:I68F	I	-	1	0	UTP6	27246119	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	4.568000	0.60857	2.030000	0.59900	0.533000	0.62120	ATC		0.303	UTP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256265.2	NM_018428	
ACACA	31	broad.mit.edu	37	17	35591953	35591953	+	Silent	SNP	T	T	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr17:35591953T>G	ENST00000394406.2	-	25	3262	c.3072A>C	c.(3070-3072)gtA>gtC	p.V1024V	ACACA_ENST00000353139.5_Silent_p.V1061V|ACACA_ENST00000335166.5_Silent_p.V946V|ACACA_ENST00000360679.3_Silent_p.V966V	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1024					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.V966V(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)	TGTAGTTCAGTACAGTGTTCA	0.408																																					p.V1061V	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A3183C	17						.						237.0	192.0	207.0					17																	35591953		2203	4300	6503	32666066	SO:0001819	synonymous_variant	31	exon25			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.3072A>C	17.37:g.35591953T>G			32666066	NM_198834	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Silent	SNP	ENST00000394406.2	37	CCDS11317.1																																																																																				0.408	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836	
SRCIN1	80725	broad.mit.edu	37	17	36720537	36720537	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr17:36720537G>A	ENST00000264659.7	-	4	582	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	SRCIN1_ENST00000578925.1_Missense_Mutation_p.R154C|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	0					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.R120C(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						TGAGTGTGGCGTGAGCTGCGG	0.687																																					p.R120C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C358T	17						.						5.0	7.0	7.0					17																	36720537		2018	4133	6151	33974063	SO:0001583	missense	80725	exon4				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.358C>T	17.37:g.36720537G>A	ENSP00000264659:p.Arg120Cys		33974063	NM_025248	Q75T46|Q8N4W8	Missense_Mutation	SNP	ENST00000264659.7	37	CCDS45660.1	.	.	.	.	.	.	.	.	.	.	G	34	5.369979	0.95900	.	.	ENSG00000017373	ENST00000264659	T	0.70399	-0.48	5.63	5.63	0.86233	.	0.061273	0.64402	D	0.000006	D	0.85440	0.5697	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86737	0.1952	9	0.72032	D	0.01	-21.0801	18.446	0.90683	0.0:0.0:1.0:0.0	.	120	Q9C0H9-5	.	C	120	ENSP00000264659:R120C	ENSP00000264659:R120C	R	-	1	0	SRCIN1	33974063	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	7.059000	0.76684	2.644000	0.89710	0.655000	0.94253	CGC		0.687	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4	NM_025248	
AOC3	8639	broad.mit.edu	37	17	41008321	41008321	+	Silent	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr17:41008321T>C	ENST00000308423.2	+	4	2206	c.2046T>C	c.(2044-2046)ttT>ttC	p.F682F	AOC3_ENST00000591562.1_Silent_p.F139F	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	682					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)	p.F682F(1)		breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CAGCTGGTTTTCTGCATATCC	0.537																																					p.F682F	NSCLC(3;192 220 10664 11501 16477)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2046C	17						.						145.0	141.0	142.0					17																	41008321		2203	4300	6503	38261847	SO:0001819	synonymous_variant	8639	exon4			AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"""vascular adhesion protein 1"""	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.2046T>C	17.37:g.41008321T>C			38261847	NM_003734	B2RCI5|K7ESB3|L0L8N9|Q45F94	Silent	SNP	ENST00000308423.2	37	CCDS11444.1																																																																																				0.537	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	NM_003734	
HIGD1B	51751	broad.mit.edu	37	17	42926676	42926676	+	Missense_Mutation	SNP	G	G	A	rs150260178		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr17:42926676G>A	ENST00000253410.2	+	2	406	c.155G>A	c.(154-156)cGt>cAt	p.R52H	HIGD1B_ENST00000591513.1_Missense_Mutation_p.R52H|HIGD1B_ENST00000587021.1_Intron	NM_016438.2	NP_057522.1	Q9P298	HIG1B_HUMAN	HIG1 hypoxia inducible domain family, member 1B	52	HIG1. {ECO:0000255|PROSITE- ProRule:PRU00836}.					integral component of membrane (GO:0016021)		p.R52H(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Prostate(33;0.109)				CTGAGGTCTCGTGGTTCCACC	0.577																																					p.R52H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G155A	17						.	G	HIS/ARG	1,4405		0,1,2202	136.0	115.0	122.0		155	5.2	1.0	17	dbSNP_134	122	0,8600		0,0,4300	no	missense	HIGD1B	NM_016438.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	52/100	42926676	1,13005	2203	4300	6503	40282202	SO:0001583	missense	51751	exon2			AB038021	CCDS11488.1	17q21.31	2009-03-17	2009-03-17			ENSG00000131097			24318	protein-coding gene	gene with protein product			"""HIG1 domain family, member 1B"""			12477932	Standard	NM_016438		Approved	CLST11240, CLST11240-15	uc031rau.1	Q9P298		ENST00000253410.2:c.155G>A	17.37:g.42926676G>A	ENSP00000253410:p.Arg52His		40282202	NM_016438	D3DX57|Q9P297	Missense_Mutation	SNP	ENST00000253410.2	37	CCDS11488.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088391	0.76756	2.27E-4	0.0	ENSG00000131097	ENST00000253410	T	0.39787	1.06	5.25	5.25	0.73442	Hypoxia induced protein, domain (2);	0.000000	0.85682	D	0.000000	T	0.67021	0.2849	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70389	-0.4885	9	0.87932	D	0	-41.6652	17.7713	0.88493	0.0:0.0:1.0:0.0	.	52	Q9P298	HIG1B_HUMAN	H	52	ENSP00000253410:R52H	ENSP00000253410:R52H	R	+	2	0	HIGD1B	40282202	0.989000	0.36119	0.992000	0.48379	0.399000	0.30720	6.829000	0.75314	2.744000	0.94065	0.561000	0.74099	CGT		0.577	HIGD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448669.1	NM_016438	
KIF18B	146909	broad.mit.edu	37	17	43004364	43004364	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr17:43004364C>T	ENST00000593135.1	-	14	2456	c.2359G>A	c.(2359-2361)Gtt>Att	p.V787I	KIF18B_ENST00000587309.1_Missense_Mutation_p.V799I|KIF18B_ENST00000438933.2_Missense_Mutation_p.V799I|KIF18B_ENST00000339151.4_Missense_Mutation_p.V790I|KIF18B_ENST00000590129.1_Missense_Mutation_p.V808I	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	799					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.V799I(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				CACCTCGCAACGCGCTTCTTC	0.637																																					p.V790I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2368A	17						.						33.0	36.0	35.0					17																	43004364		2033	4203	6236	40359890	SO:0001583	missense	146909	exon14				CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"""Kinesins"""	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.2359G>A	17.37:g.43004364C>T	ENSP00000465992:p.Val787Ile		40359890	NM_001080443	A6NJI2|B7ZM49|B9EGM8|D5L6I1	Missense_Mutation	SNP	ENST00000593135.1	37	CCDS45709.2	.	.	.	.	.	.	.	.	.	.	C	7.843	0.722392	0.15439	.	.	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	T;T	0.72615	-0.66;-0.67	4.94	-9.87	0.00470	.	.	.	.	.	T	0.44117	0.1278	N	0.16478	0.41	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.06405	0.001;0.002;0.001	T	0.29579	-1.0007	9	0.36615	T	0.2	.	4.9781	0.14151	0.0807:0.4484:0.343:0.1279	.	799;796;808	Q86Y91;Q86Y91-3;Q86Y91-2	KI18B_HUMAN;.;.	I	799;790;799	ENSP00000412798:V799I;ENSP00000341466:V790I	ENSP00000341466:V790I	V	-	1	0	KIF18B	40359890	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.657000	0.00202	-3.230000	0.00209	-1.004000	0.02495	GTT		0.637	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	NM_001080443	
HEXIM2	124790	broad.mit.edu	37	17	43246457	43246457	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr17:43246457C>T	ENST00000307275.3	+	4	578	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	RP13-890H12.2_ENST00000589796.1_RNA|HEXIM2_ENST00000591576.1_Missense_Mutation_p.R48W|HEXIM2_ENST00000592695.1_Missense_Mutation_p.R48W|RP13-890H12.2_ENST00000589451.1_RNA	NM_144608.1	NP_653209.1	Q96MH2	HEXI2_HUMAN	hexamethylene bis-acetamide inducible 2	48					negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)	p.R48W(1)		endometrium(1)|large_intestine(3)|lung(1)	5						CCTGACACCGCGGATGGAGAG	0.647																																					p.R48W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C142T	17						.						110.0	124.0	119.0					17																	43246457		2203	4300	6503	40602240	SO:0001583	missense	124790	exon4			AK056946	CCDS11496.1	17q21.31	2011-07-29	2011-07-29			ENSG00000168517			28591	protein-coding gene	gene with protein product		615695				12832472	Standard	NM_144608		Approved	FLJ32384	uc002iih.1	Q96MH2		ENST00000307275.3:c.142C>T	17.37:g.43246457C>T	ENSP00000302276:p.Arg48Trp		40602240	NM_144608	D3DX66	Missense_Mutation	SNP	ENST00000307275.3	37	CCDS11496.1	.	.	.	.	.	.	.	.	.	.	C	19.87	3.906651	0.72868	.	.	ENSG00000168517	ENST00000307275	.	.	.	5.51	0.704	0.18121	.	0.990707	0.08202	N	0.982113	T	0.27278	0.0669	L	0.36672	1.1	0.09310	N	1	D	0.54772	0.968	B	0.40636	0.335	T	0.20840	-1.0263	9	0.66056	D	0.02	-4.0904	7.1833	0.25784	0.2756:0.3262:0.3983:0.0	.	48	Q96MH2	HEXI2_HUMAN	W	48	.	ENSP00000302276:R48W	R	+	1	2	HEXIM2	40602240	0.000000	0.05858	0.000000	0.03702	0.939000	0.58152	-0.522000	0.06237	0.221000	0.20879	0.561000	0.74099	CGG		0.647	HEXIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450181.1	NM_144608	
ARHGAP27	201176	broad.mit.edu	37	17	43475330	43475330	+	Silent	SNP	C	C	T	rs76353181	byFrequency	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr17:43475330C>T	ENST00000428638.1	-	10	1826	c.1827G>A	c.(1825-1827)caG>caA	p.Q609Q	ARHGAP27_ENST00000455881.1_Silent_p.Q268Q|ARHGAP27_ENST00000528384.1_Silent_p.Q241Q|ARHGAP27_ENST00000532891.2_Silent_p.Q587Q|ARHGAP27_ENST00000376922.2_Silent_p.Q268Q|ARHGAP27_ENST00000582826.1_5'UTR|ARHGAP27_ENST00000442348.1_Silent_p.Q582Q|ARHGAP27_ENST00000532038.1_Silent_p.Q387Q|CTB-39G8.3_ENST00000592389.1_RNA			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	609	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of Rac GTPase activity (GO:0032855)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|SH3 domain binding (GO:0017124)	p.Q268Q(1)		endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					CCTGGATGCCCTGAGCAATGG	0.622																																					p.Q268Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G804A	17						.						101.0	88.0	92.0					17																	43475330		2203	4300	6503	40831113	SO:0001819	synonymous_variant	201176	exon10			AK125535	CCDS11498.1, CCDS74082.1	17q21.31	2013-01-10			ENSG00000159314	ENSG00000159314		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	31813	protein-coding gene	gene with protein product		610591	"""SH3 domain containing 20"""	SH3D20		15147912	Standard	NM_199282		Approved	CAMGAP1, FLJ43547, SH3P20	uc002iix.3	Q6ZUM4	OTTHUMG00000166982	ENST00000428638.1:c.1827G>A	17.37:g.43475330C>T			40831113	NM_199282	A4FU35|A8K3N5|C9JTF3|Q494U0|Q6NWZ8|Q8WY58	Silent	SNP	ENST00000428638.1	37																																																																																					0.622	ARHGAP27-202	KNOWN	basic	protein_coding	protein_coding		NM_199282	
ITGA3	3675	broad.mit.edu	37	17	48156593	48156593	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr17:48156593C>G	ENST00000320031.8	+	20	2884	c.2554C>G	c.(2554-2556)Ctt>Gtt	p.L852V	ITGA3_ENST00000007722.7_Missense_Mutation_p.L852V	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)	852					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.L852V(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						ACCTGGAGACCTTATCAACCC	0.552																																					p.L852V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2554G	17						.						159.0	147.0	151.0					17																	48156593		2203	4300	6503	45511592	SO:0001583	missense	3675	exon20			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.2554C>G	17.37:g.48156593C>G	ENSP00000315190:p.Leu852Val		45511592	NM_002204	A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	37	CCDS11558.1	.	.	.	.	.	.	.	.	.	.	C	6.763	0.509593	0.12883	.	.	ENSG00000005884	ENST00000007722;ENST00000538917;ENST00000320031	T;T	0.44881	0.91;0.91	5.05	3.08	0.35506	Integrin alpha-2 (1);	0.350255	0.28803	N	0.014087	T	0.17916	0.0430	N	0.05383	-0.06	0.80722	D	1	B;B	0.25351	0.124;0.033	B;B	0.23275	0.03;0.045	T	0.04991	-1.0913	10	0.15066	T	0.55	.	5.5115	0.16884	0.0:0.5549:0.2683:0.1768	.	852;852	P26006-1;P26006	.;ITA3_HUMAN	V	852;838;852	ENSP00000007722:L852V;ENSP00000315190:L852V	ENSP00000007722:L852V	L	+	1	0	ITGA3	45511592	0.023000	0.18921	0.777000	0.31699	0.917000	0.54804	0.268000	0.18571	0.737000	0.32582	0.313000	0.20887	CTT		0.552	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501	
EME1	146956	broad.mit.edu	37	17	48458254	48458254	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr17:48458254A>G	ENST00000338165.4	+	9	1749	c.1667A>G	c.(1666-1668)cAg>cGg	p.Q556R	EME1_ENST00000511648.2_Missense_Mutation_p.Q569R|EME1_ENST00000393271.2_Missense_Mutation_p.Q569R	NM_152463.2	NP_689676.2	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	556					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.Q556R(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			ATCTACCTTCAGATGACCACT	0.512								Direct reversal of damage;Homologous recombination																													p.Q569R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1706G	17						.						143.0	118.0	126.0					17																	48458254		2203	4300	6503	45813253	SO:0001583	missense	146956	exon9			BC016470	CCDS11565.1, CCDS54141.1	17q21.33	2013-07-03	2013-07-03			ENSG00000154920			24965	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog A (S. cerevisiae)"""	610885	"""essential meiotic endonuclease 1 homolog 1 (S. pombe)"""			12721304	Standard	NM_001166131		Approved	FLJ31364, MMS4L, SLX2A	uc010dbp.2	Q96AY2		ENST00000338165.4:c.1667A>G	17.37:g.48458254A>G	ENSP00000339897:p.Gln556Arg		45813253	NM_001166131	Q96N62	Missense_Mutation	SNP	ENST00000338165.4	37	CCDS11565.1	.	.	.	.	.	.	.	.	.	.	A	19.06	3.753077	0.69648	.	.	ENSG00000154920	ENST00000338165;ENST00000393271;ENST00000511648	T;T;T	0.10960	2.82;2.82;2.82	6.16	6.16	0.99307	.	0.142303	0.48286	D	0.000188	T	0.32436	0.0829	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.957	T	0.00920	-1.1514	10	0.62326	D	0.03	-5.3387	16.8061	0.85666	1.0:0.0:0.0:0.0	.	569;556	Q96AY2-2;Q96AY2	.;EME1_HUMAN	R	556;569;569	ENSP00000339897:Q556R;ENSP00000376952:Q569R;ENSP00000421700:Q569R	ENSP00000339897:Q556R	Q	+	2	0	EME1	45813253	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	4.537000	0.60643	2.367000	0.80283	0.528000	0.53228	CAG		0.512	EME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367118.3	NM_152463	
CAMTA2	23125	broad.mit.edu	37	17	4877766	4877766	+	Nonsense_Mutation	SNP	G	G	A	rs147496832		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr17:4877766G>A	ENST00000348066.3	-	12	2053	c.1930C>T	c.(1930-1932)Cga>Tga	p.R644*	RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000358183.4_Nonsense_Mutation_p.R644*|CAMTA2_ENST00000414043.3_Nonsense_Mutation_p.R667*|CAMTA2_ENST00000381311.5_Nonsense_Mutation_p.R646*|CAMTA2_ENST00000361571.5_Nonsense_Mutation_p.R643*|CAMTA2_ENST00000572543.1_Nonsense_Mutation_p.R649*	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	644					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)	p.R644*(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TGCTCCAGTCGCTCTAGTATG	0.577																																					p.R644X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1930T	17						.	G	stop/ARG,stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	136.0	105.0	116.0		1936,1999,1927,1930	5.4	1.0	17	dbSNP_134	116	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained,stop-gained,stop-gained	CAMTA2	NM_001171166.1,NM_001171167.1,NM_001171168.1,NM_015099.3	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	646/1198,667/1242,643/1202,644/1203	4877766	1,13005	2203	4300	6503	4818490	SO:0001587	stop_gained	23125	exon12			AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.1930C>T	17.37:g.4877766G>A	ENSP00000321813:p.Arg644*		4818490	NM_015099	B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Nonsense_Mutation	SNP	ENST00000348066.3	37	CCDS11063.1	.	.	.	.	.	.	.	.	.	.	G	39	7.713628	0.98447	0.0	1.16E-4	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	.	.	.	5.38	5.38	0.77491	.	0.078126	0.51477	D	0.000086	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.3041	16.6795	0.85288	0.0:0.0:1.0:0.0	.	.	.	.	X	667;646;643;644;644	.	ENSP00000321813:R644X	R	-	1	2	CAMTA2	4818490	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.558000	0.82253	2.813000	0.96785	0.655000	0.94253	CGA		0.577	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099	
CACNA1G	8913	broad.mit.edu	37	17	48646601	48646601	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr17:48646601A>G	ENST00000359106.5	+	3	430	c.430A>G	c.(430-432)Aaa>Gaa	p.K144E	CACNA1G_ENST00000510366.1_Missense_Mutation_p.K144E|CACNA1G_ENST00000352832.5_Missense_Mutation_p.K144E|CACNA1G_ENST00000429973.2_Missense_Mutation_p.K144E|CACNA1G_ENST00000514079.1_Missense_Mutation_p.K144E|CACNA1G_ENST00000354983.4_Missense_Mutation_p.K144E|CACNA1G_ENST00000507336.1_Missense_Mutation_p.K144E|CACNA1G_ENST00000360761.4_Missense_Mutation_p.K144E|CACNA1G_ENST00000510115.1_Missense_Mutation_p.K144E|CACNA1G_ENST00000507609.1_Missense_Mutation_p.K144E|CACNA1G_ENST00000515411.1_Missense_Mutation_p.K144E|CACNA1G_ENST00000513964.1_Missense_Mutation_p.K144E|CACNA1G_ENST00000416767.4_Missense_Mutation_p.K144E|CACNA1G_ENST00000514181.1_Missense_Mutation_p.K144E|CACNA1G_ENST00000514717.1_Missense_Mutation_p.K144E|CACNA1G_ENST00000513689.2_Missense_Mutation_p.K144E|CACNA1G_ENST00000358244.5_Missense_Mutation_p.K144E|CACNA1G_ENST00000503485.1_Missense_Mutation_p.K144E|CACNA1G_ENST00000502264.1_Missense_Mutation_p.K144E|CACNA1G_ENST00000512389.1_Missense_Mutation_p.K144E|CACNA1G_ENST00000442258.2_Missense_Mutation_p.K144E|CACNA1G_ENST00000515165.1_Missense_Mutation_p.K144E|CACNA1G_ENST00000507510.2_Missense_Mutation_p.K144E|CACNA1G_ENST00000515765.1_Missense_Mutation_p.K144E|CACNA1G_ENST00000507896.1_Missense_Mutation_p.K144E|CACNA1G_ENST00000505165.1_Missense_Mutation_p.K144E	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	144					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)	p.K144E(3)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CATCTTTGGGAAAAAGTGTTA	0.537																																					p.K144E												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.A430G	17						.						156.0	151.0	153.0					17																	48646601		2007	4176	6183	46001600	SO:0001583	missense	8913	exon3			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.430A>G	17.37:g.48646601A>G	ENSP00000352011:p.Lys144Glu		46001600	NM_198382	D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	a	18.69	3.678292	0.68042	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98531	-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98	5.06	5.06	0.68205	Ion transport (1);	0.099685	0.64402	D	0.000002	D	0.97945	0.9324	L	0.41906	1.305	0.47407	D	0.999412	D;P;P;D;D;D;D;D;D;B;D;P;P;D;D;B;D;P;D;P;D;P;D;P;D;D	0.76494	0.994;0.621;0.943;0.973;0.999;0.966;0.995;0.999;0.995;0.132;0.999;0.86;0.885;0.998;0.997;0.41;0.996;0.949;0.999;0.89;0.992;0.885;0.998;0.803;0.972;0.994	D;P;P;D;D;P;D;D;D;B;D;P;P;D;D;P;D;P;D;P;D;P;D;B;P;P	0.91635	0.991;0.688;0.906;0.93;0.976;0.869;0.994;0.999;0.994;0.326;0.998;0.661;0.771;0.968;0.994;0.475;0.933;0.712;0.999;0.714;0.977;0.771;0.992;0.374;0.86;0.89	D	0.97362	0.9970	10	0.21540	T	0.41	.	14.8076	0.69968	1.0:0.0:0.0:0.0	.	144;144;144;144;144;144;144;144;144;144;144;144;144;144;144;144;144;144;144;144;144;144;144;144;144;144	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	E	144	ENSP00000353990:K144E;ENSP00000339302:K144E;ENSP00000392390:K144E;ENSP00000347078:K144E;ENSP00000409759:K144E;ENSP00000425522:K144E;ENSP00000426261:K144E;ENSP00000425451:K144E;ENSP00000422407:K144E;ENSP00000426814:K144E;ENSP00000427238:K144E;ENSP00000423112:K144E;ENSP00000420918:K144E;ENSP00000426172:K144E;ENSP00000423045:K144E;ENSP00000427173:K144E;ENSP00000426098:K144E;ENSP00000425698:K144E;ENSP00000426232:K144E;ENSP00000423317:K144E;ENSP00000350979:K144E;ENSP00000352011:K144E;ENSP00000414388:K144E;ENSP00000423155:K144E;ENSP00000422268:K144E;ENSP00000421518:K144E	ENSP00000339302:K144E	K	+	1	0	CACNA1G	46001600	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.921000	0.63397	1.902000	0.55061	0.334000	0.21626	AAA		0.537	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896	
EPX	8288	broad.mit.edu	37	17	56272481	56272481	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr17:56272481G>A	ENST00000225371.5	+	6	861	c.751G>A	c.(751-753)Gtt>Att	p.V251I		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	251					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.V251I(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	CACTGCAGGCGTTGACTGTGA	0.627																																					p.V251I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G751A	17						.						73.0	75.0	74.0					17																	56272481		2203	4300	6503	53627480	SO:0001583	missense	8288	exon6			M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.751G>A	17.37:g.56272481G>A	ENSP00000225371:p.Val251Ile		53627480	NM_000502	Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	G	0.191	-1.053135	0.01965	.	.	ENSG00000121053	ENST00000225371	T	0.72282	-0.64	4.39	3.41	0.39046	.	0.389745	0.29002	N	0.013442	T	0.42562	0.1208	N	0.05230	-0.09	0.09310	N	1	B	0.17038	0.02	B	0.16722	0.016	T	0.14282	-1.0478	10	0.17832	T	0.49	-9.5459	5.9668	0.19330	0.2056:0.0:0.7944:0.0	.	251	P11678	PERE_HUMAN	I	251	ENSP00000225371:V251I	ENSP00000225371:V251I	V	+	1	0	EPX	53627480	0.002000	0.14202	0.090000	0.20809	0.060000	0.15804	0.456000	0.21859	2.428000	0.82296	0.561000	0.74099	GTT		0.627	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502	
CLTC	1213	broad.mit.edu	37	17	57743922	57743922	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr17:57743922C>A	ENST00000269122.3	+	12	2138	c.1864C>A	c.(1864-1866)Cta>Ata	p.L622I	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.L622I	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	622	Distal segment.|Heavy chain arm.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)	p.L622I(1)	CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AAAGGCTGGCCTACTGCAGCG	0.413			T	"""ALK, TFE3"""	"""ALCL, renal """																																p.L622I			Dom	yes		17	17q11-qter	1213	"""clathrin, heavy polypeptide (Hc)"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1864A	17						.						116.0	108.0	111.0					17																	57743922		2203	4300	6503	55098704	SO:0001583	missense	1213	exon12			X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.1864C>A	17.37:g.57743922C>A	ENSP00000269122:p.Leu622Ile		55098704	NM_004859	D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991013	0.74703	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.33865	1.39;1.39	5.84	1.72	0.24424	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.064498	0.64402	D	0.000007	T	0.66228	0.2768	H	0.94658	3.565	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.83275	0.996;0.995	T	0.69855	-0.5032	10	0.87932	D	0	.	10.1106	0.42561	0.0:0.65:0.0:0.35	.	622;622	Q00610;Q00610-2	CLH1_HUMAN;.	I	622	ENSP00000269122:L622I;ENSP00000376763:L622I	ENSP00000269122:L622I	L	+	1	2	CLTC	55098704	0.679000	0.27596	0.109000	0.21407	0.996000	0.88848	1.257000	0.32932	0.118000	0.18165	-0.143000	0.13931	CTA		0.413	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859	
USP32	84669	broad.mit.edu	37	17	58365949	58365949	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr17:58365949T>C	ENST00000300896.4	-	5	700	c.506A>G	c.(505-507)tAt>tGt	p.Y169C	USP32_ENST00000393003.3_Missense_Mutation_p.Y169C	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	169					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.Y169C(1)		NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			GAGGGTAACATACACACCTCC	0.363																																					p.Y169C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A506G	17						.						102.0	95.0	97.0					17																	58365949		2203	4300	6503	55720731	SO:0001583	missense	84669	exon5			AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.506A>G	17.37:g.58365949T>C	ENSP00000300896:p.Tyr169Cys		55720731	NM_032582	Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	T	13.15	2.151015	0.38021	.	.	ENSG00000170832	ENST00000300896;ENST00000393003	T;T	0.69926	1.09;-0.44	5.67	5.67	0.87782	.	0.105090	0.64402	D	0.000002	T	0.29556	0.0737	N	0.00210	-1.845	0.39317	D	0.96517	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.34428	-0.9829	10	0.38643	T	0.18	.	11.0529	0.47901	0.1385:0.0:0.0:0.8615	.	169;169	Q7Z5T3;Q8NFA0	.;UBP32_HUMAN	C	169	ENSP00000300896:Y169C;ENSP00000376727:Y169C	ENSP00000300896:Y169C	Y	-	2	0	USP32	55720731	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.741000	0.62095	2.147000	0.66899	0.533000	0.62120	TAT		0.363	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582	
AIPL1	23746	broad.mit.edu	37	17	6338337	6338337	+	Missense_Mutation	SNP	C	C	T	rs145112457		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr17:6338337C>T	ENST00000381129.3	-	1	168	c.88G>A	c.(88-90)Gga>Aga	p.G30R	AIPL1_ENST00000570466.1_Missense_Mutation_p.G30R|AIPL1_ENST00000576776.1_Missense_Mutation_p.G30R|AIPL1_ENST00000575265.1_Missense_Mutation_p.G30R|AIPL1_ENST00000571740.1_Missense_Mutation_p.G30R|AIPL1_ENST00000250087.5_Missense_Mutation_p.G30R|AIPL1_ENST00000574506.1_Missense_Mutation_p.G30R|AIPL1_ENST00000576307.1_Missense_Mutation_p.G30R	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	30					negative regulation of apoptotic process (GO:0043066)|phototransduction, visible light (GO:0007603)|protein farnesylation (GO:0018343)|protein folding (GO:0006457)|regulation of cGMP metabolic process (GO:0030823)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)	farnesylated protein binding (GO:0001918)|unfolded protein binding (GO:0051082)	p.G30R(1)		NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		ACTCGGGATCCGGTGATGAAG	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		14712	0.001		0.0	False		,,,				2504	0.0				p.G30R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G88A	17						.						50.0	49.0	49.0					17																	6338337		2203	4300	6503	6279061	SO:0001583	missense	23746	exon1			AF148864	CCDS11075.1, CCDS32539.1, CCDS32540.1, CCDS67130.1, CCDS67131.1, CCDS67132.1, CCDS67133.1	17p13.1	2013-01-08	2001-11-29		ENSG00000129221	ENSG00000129221			359	protein-coding gene	gene with protein product		604392	"""aryl hydrocarbon receptor-interacting protein-like 1"""	LCA4		10615133, 14555765, 15365173	Standard	NM_001285402		Approved		uc002gcp.3	Q9NZN9	OTTHUMG00000102043	ENST00000381129.3:c.88G>A	17.37:g.6338337C>T	ENSP00000370521:p.Gly30Arg		6279061	NM_001033054	D3DTM4|Q659W3|Q659W4|Q6ZZB6|Q8N6A0|Q9H873|Q9NS10	Missense_Mutation	SNP	ENST00000381129.3	37	CCDS11075.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	19.35	3.810880	0.70797	.	.	ENSG00000129221	ENST00000381129;ENST00000381128;ENST00000250087;ENST00000444243	D;D;D	0.94138	-3.36;-2.76;-3.36	5.51	4.54	0.55810	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (1);	0.050345	0.85682	N	0.000000	D	0.96929	0.8997	M	0.90595	3.13	0.80722	D	1	D;D;D;D;P;D	0.89917	1.0;1.0;1.0;1.0;0.927;1.0	D;D;D;D;B;D	0.97110	1.0;0.999;1.0;1.0;0.381;1.0	D	0.97099	0.9796	10	0.62326	D	0.03	-18.3592	12.3175	0.54966	0.0:0.9175:0.0:0.0825	.	30;30;30;30;30;30	Q659W3;Q659W4;F1T0C4;Q9NZN9-3;Q9NZN9-2;Q9NZN9	.;.;.;.;.;AIPL1_HUMAN	R	30	ENSP00000370521:G30R;ENSP00000370520:G30R;ENSP00000250087:G30R	ENSP00000250087:G30R	G	-	1	0	AIPL1	6279061	1.000000	0.71417	0.062000	0.19696	0.986000	0.74619	5.237000	0.65360	1.308000	0.44962	0.655000	0.94253	GGA		0.597	AIPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219828.3	NM_014336	
RGS9	8787	broad.mit.edu	37	17	63221442	63221442	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr17:63221442G>A	ENST00000262406.9	+	18	1797	c.1730G>A	c.(1729-1731)cGc>cAc	p.R577H	RGS9_ENST00000443584.3_Missense_Mutation_p.R574H|RGS9_ENST00000449996.3_Missense_Mutation_p.R574H	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	577					dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.R577H(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CCTAAGGCCCGCATGGCTCTG	0.682																																					p.R577H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1730A	17						.						73.0	77.0	75.0					17																	63221442		1919	4123	6042	60651904	SO:0001583	missense	8787	exon18			AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"""Regulators of G-protein signaling"""	10004	protein-coding gene	gene with protein product	"""regulator of G protein signalling 9"", ""regulator of G protein signalling 9L"", ""regulator of G-protein signaling 9L"""	604067	"""regulator of G-protein signalling 9"""			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.1730G>A	17.37:g.63221442G>A	ENSP00000262406:p.Arg577His		60651904	NM_003835	A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	ENST00000262406.9	37	CCDS42373.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489843	0.84962	.	.	ENSG00000108370	ENST00000262406;ENST00000449996	T;T	0.39229	1.11;1.09	4.76	3.75	0.43078	.	0.064018	0.64402	D	0.000005	T	0.57125	0.2032	M	0.63843	1.955	0.36343	D	0.859586	D;D;D	0.89917	0.996;1.0;1.0	P;D;D	0.83275	0.764;0.996;0.942	T	0.65726	-0.6098	10	0.87932	D	0	.	8.1579	0.31180	0.0813:0.0:0.7598:0.1589	.	577;577;574	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	H	577;574	ENSP00000262406:R577H;ENSP00000396329:R574H	ENSP00000262406:R577H	R	+	2	0	RGS9	60651904	1.000000	0.71417	0.848000	0.33437	0.990000	0.78478	4.035000	0.57297	1.255000	0.44051	0.561000	0.74099	CGC		0.682	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835	
ABCA6	23460	broad.mit.edu	37	17	67075151	67075151	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr17:67075151A>G	ENST00000284425.2	-	39	4991	c.4817T>C	c.(4816-4818)aTg>aCg	p.M1606T	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1606					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.M1606T(1)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TTTCCATCTCATTGTTGTATC	0.313																																					p.M1606T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4817C	17						.						132.0	134.0	134.0					17																	67075151		2202	4300	6502	64586746	SO:0001583	missense	23460	exon39			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.4817T>C	17.37:g.67075151A>G	ENSP00000284425:p.Met1606Thr		64586746	NM_080284	Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	A	13.27	2.188567	0.38609	.	.	ENSG00000154262	ENST00000284425;ENST00000446604	T	0.75050	-0.9	4.66	4.66	0.58398	.	0.520316	0.16341	N	0.218691	T	0.68109	0.2965	L	0.44542	1.39	0.80722	D	1	B	0.16603	0.018	B	0.20184	0.028	T	0.67364	-0.5689	10	0.72032	D	0.01	.	12.3437	0.55109	1.0:0.0:0.0:0.0	.	1606	Q8N139	ABCA6_HUMAN	T	1606;466	ENSP00000284425:M1606T	ENSP00000284425:M1606T	M	-	2	0	ABCA6	64586746	0.098000	0.21812	0.956000	0.39512	0.986000	0.74619	3.006000	0.49529	2.094000	0.63399	0.482000	0.46254	ATG		0.313	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284	
C17orf77	146723	broad.mit.edu	37	17	72588686	72588686	+	Silent	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr17:72588686G>T	ENST00000392620.1	+	3	863	c.501G>T	c.(499-501)ggG>ggT	p.G167G	CD300LD_ENST00000375352.1_5'Flank|C17orf77_ENST00000328023.2_Silent_p.G167G	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	167						extracellular region (GO:0005576)		p.G167G(1)		breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						GGAGCTGCGGGATCTACTGCC	0.597																																					p.G167G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G501T	17						.						94.0	77.0	83.0					17																	72588686		2203	4300	6503	70100281	SO:0001819	synonymous_variant	146723	exon3				CCDS32721.1	17q25.1	2006-01-16			ENSG00000182352	ENSG00000182352			26480	protein-coding gene	gene with protein product							Standard	NM_152460		Approved	FLJ31882	uc002jla.1	Q96MU5	OTTHUMG00000067611	ENST00000392620.1:c.501G>T	17.37:g.72588686G>T			70100281	NM_152460		Silent	SNP	ENST00000392620.1	37	CCDS32721.1																																																																																				0.597	C17orf77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145090.2	NM_152460	
TNK1	8711	broad.mit.edu	37	17	7291882	7291882	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr17:7291882C>A	ENST00000576812.1	+	11	2019	c.1650C>A	c.(1648-1650)agC>agA	p.S550R	TNK1_ENST00000570896.1_Missense_Mutation_p.S545R|TNK1_ENST00000311668.2_Missense_Mutation_p.S545R	NM_001251902.1	NP_001238831.1			tyrosine kinase, non-receptor, 1									p.S550R(1)		central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				CTCAGCCCAGCCAGCCCTCTA	0.617																																					p.S545R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1635A	17						.						53.0	64.0	60.0					17																	7291882		1937	4127	6064	7232606	SO:0001583	missense	8711	exon11			U43408	CCDS45602.1, CCDS58510.1	17p13.1	2005-09-22				ENSG00000174292			11940	protein-coding gene	gene with protein product		608076				8632913	Standard	NM_003985		Approved		uc002ggi.4	Q13470		ENST00000576812.1:c.1650C>A	17.37:g.7291882C>A	ENSP00000459799:p.Ser550Arg		7232606	NM_003985		Missense_Mutation	SNP	ENST00000576812.1	37	CCDS58510.1	.	.	.	.	.	.	.	.	.	.	C	6.570	0.473431	0.12521	.	.	ENSG00000174292	ENST00000311668	T	0.75367	-0.93	4.18	1.16	0.20824	.	0.765588	0.11979	N	0.510981	T	0.49029	0.1533	N	0.08118	0	0.22918	N	0.998568	B;B	0.26195	0.144;0.089	B;B	0.25405	0.06;0.027	T	0.34030	-0.9845	10	0.30078	T	0.28	.	4.3434	0.11120	0.0:0.563:0.1644:0.2726	.	545;550	Q13470-2;Q13470	.;TNK1_HUMAN	R	545	ENSP00000312309:S545R	ENSP00000312309:S545R	S	+	3	2	TNK1	7232606	0.109000	0.22037	0.996000	0.52242	0.841000	0.47740	-0.068000	0.11561	0.342000	0.23796	-0.766000	0.03442	AGC		0.617	TNK1-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440832.2	NM_003985	
TNK1	8711	broad.mit.edu	37	17	7292367	7292367	+	Silent	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr17:7292367C>A	ENST00000576812.1	+	13	2334	c.1965C>A	c.(1963-1965)ctC>ctA	p.L655L	TNK1_ENST00000570896.1_Silent_p.L650L|TNK1_ENST00000311668.2_Silent_p.L650L	NM_001251902.1	NP_001238831.1			tyrosine kinase, non-receptor, 1									p.L655L(1)		central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				AGTGGGACCTCTCAGCTGCCA	0.617																																					p.L650L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1950A	17						.						20.0	24.0	22.0					17																	7292367		2001	4110	6111	7233091	SO:0001819	synonymous_variant	8711	exon13			U43408	CCDS45602.1, CCDS58510.1	17p13.1	2005-09-22				ENSG00000174292			11940	protein-coding gene	gene with protein product		608076				8632913	Standard	NM_003985		Approved		uc002ggi.4	Q13470		ENST00000576812.1:c.1965C>A	17.37:g.7292367C>A			7233091	NM_003985		Silent	SNP	ENST00000576812.1	37	CCDS58510.1																																																																																				0.617	TNK1-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440832.2	NM_003985	
CDK3	1018	broad.mit.edu	37	17	73998125	73998125	+	Missense_Mutation	SNP	G	G	A	rs140567861		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr17:73998125G>A	ENST00000425876.2	+	3	305	c.217G>A	c.(217-219)Gag>Aag	p.E73K	CDK3_ENST00000448471.1_Missense_Mutation_p.E73K|TEN1-CDK3_ENST00000567351.1_RNA			Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	73	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|G0 to G1 transition (GO:0045023)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.E73K(1)		central_nervous_system(1)	1						GGTGCACAACGAGAGGAAGCT	0.572																																					p.E73K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G217A	17						.	G	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	119.0	100.0	107.0		217	4.8	0.9	17	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CDK3	NM_001258.2	56	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	73/306	73998125	2,13004	2203	4300	6503	71509720	SO:0001583	missense	1018	exon4			X66357	CCDS11736.1	17q25.1	2012-09-20			ENSG00000250506	ENSG00000250506		"""Cyclin-dependent kinases"""	1772	protein-coding gene	gene with protein product		123828				1639063	Standard	NM_001258		Approved		uc010dgt.3	Q00526	OTTHUMG00000154861	ENST00000425876.2:c.217G>A	17.37:g.73998125G>A	ENSP00000410561:p.Glu73Lys		71509720	NM_001258		Missense_Mutation	SNP	ENST00000425876.2	37	CCDS11736.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.599246	0.46318	2.27E-4	1.16E-4	ENSG00000250506	ENST00000448471;ENST00000425876	T;T	0.64438	-0.1;-0.1	4.76	4.76	0.60689	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.356461	0.24020	N	0.042282	T	0.39332	0.1074	N	0.03268	-0.37	0.42599	D	0.993279	B	0.30361	0.277	B	0.28139	0.086	T	0.48779	-0.9005	10	0.66056	D	0.02	-19.3585	13.3969	0.60858	0.0:0.171:0.8289:0.0	.	73	Q00526	CDK3_HUMAN	K	73	ENSP00000400088:E73K;ENSP00000410561:E73K	ENSP00000410561:E73K	E	+	1	0	CDK3	71509720	1.000000	0.71417	0.930000	0.37139	0.027000	0.11550	7.316000	0.79007	2.476000	0.83614	0.655000	0.94253	GAG		0.572	CDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337389.2	NM_001258	
DNAH2	146754	broad.mit.edu	37	17	7697615	7697615	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr17:7697615G>A	ENST00000572933.1	+	49	9073	c.7613G>A	c.(7612-7614)cGg>cAg	p.R2538Q	DNAH2_ENST00000389173.2_Missense_Mutation_p.R2538Q			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2538	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R2538Q(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GGGGGTGGACGGACTGTCATC	0.612																																					p.R2538Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7613A	17						.						80.0	70.0	73.0					17																	7697615		2203	4300	6503	7638340	SO:0001583	missense	146754	exon48			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.7613G>A	17.37:g.7697615G>A	ENSP00000458355:p.Arg2538Gln		7638340	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	36	5.738233	0.96865	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.35236	1.32	5.82	5.82	0.92795	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.76765	0.4033	H	0.98351	4.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85401	0.1131	10	0.66056	D	0.02	.	18.8703	0.92311	0.0:0.0:1.0:0.0	.	2538	Q9P225	DYH2_HUMAN	Q	2538	ENSP00000373825:R2538Q	ENSP00000353818:R2538Q	R	+	2	0	DNAH2	7638340	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.598000	0.90852	2.764000	0.94973	0.650000	0.86243	CGG		0.612	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
DNAH2	146754	broad.mit.edu	37	17	7720642	7720642	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr17:7720642A>G	ENST00000572933.1	+	65	11389	c.9929A>G	c.(9928-9930)gAc>gGc	p.D3310G	DNAH2_ENST00000389173.2_Missense_Mutation_p.D3310G			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3310					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D3310G(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTGGTGGGGGACTGTCTCCTG	0.607																																					p.D3310G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A9929G	17						.						65.0	70.0	68.0					17																	7720642		2203	4300	6503	7661367	SO:0001583	missense	146754	exon64			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.9929A>G	17.37:g.7720642A>G	ENSP00000458355:p.Asp3310Gly		7661367	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	A	19.93	3.918333	0.73098	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.81163	-1.46	5.0	5.0	0.66597	Dynein heavy chain, coiled coil stalk (1);	0.142778	0.49916	D	0.000129	D	0.93249	0.7849	H	0.98629	4.285	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.79784	0.98;0.993	D	0.95074	0.8207	10	0.87932	D	0	.	12.3095	0.54920	1.0:0.0:0.0:0.0	.	3271;3310	Q9P225-2;Q9P225	.;DYH2_HUMAN	G	3271;3310	ENSP00000373825:D3310G	ENSP00000353818:D3271G	D	+	2	0	DNAH2	7661367	1.000000	0.71417	0.996000	0.52242	0.757000	0.42996	7.933000	0.87642	2.097000	0.63578	0.460000	0.39030	GAC		0.607	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
CHD3	1107	broad.mit.edu	37	17	7807153	7807153	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr17:7807153G>T	ENST00000330494.7	+	24	3888	c.3738G>T	c.(3736-3738)aaG>aaT	p.K1246N	CHD3_ENST00000380358.4_Missense_Mutation_p.K1305N|SCARNA21_ENST00000517026.1_RNA|CHD3_ENST00000358181.4_Missense_Mutation_p.K1246N	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1246					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.K1246N(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)				GGGAGAACAAGGAGGAGGACA	0.502																																					p.K1246N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3738T	17						.						76.0	67.0	70.0					17																	7807153		2203	4300	6503	7747878	SO:0001583	missense	1107	exon24			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.3738G>T	17.37:g.7807153G>T	ENSP00000332628:p.Lys1246Asn		7747878	NM_005852	D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.572268	0.45798	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.95272	-3.66;-3.66;-3.66	4.76	1.7	0.24286	.	0.000000	0.45361	D	0.000374	D	0.91758	0.7393	L	0.40543	1.245	0.49798	D	0.999826	P;D;P	0.55385	0.886;0.971;0.92	P;P;P	0.49829	0.623;0.598;0.516	D	0.88072	0.2801	10	0.39692	T	0.17	-30.7261	9.2087	0.37304	0.2933:0.0:0.7067:0.0	.	1246;1246;1305	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	N	1305;1246;1246	ENSP00000369716:K1305N;ENSP00000350907:K1246N;ENSP00000332628:K1246N	ENSP00000332628:K1246N	K	+	3	2	CHD3	7747878	0.769000	0.28531	1.000000	0.80357	0.988000	0.76386	-0.189000	0.09629	0.324000	0.23333	0.561000	0.74099	AAG		0.502	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273	
TNRC6C	57690	broad.mit.edu	37	17	76046807	76046807	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr17:76046807G>A	ENST00000588061.1	+	5	2391	c.1664G>A	c.(1663-1665)gGc>gAc	p.G555D	TNRC6C_ENST00000541771.1_Missense_Mutation_p.G555D|TNRC6C_ENST00000544502.1_Missense_Mutation_p.G555D|TNRC6C_ENST00000588847.1_Missense_Mutation_p.G555D|TNRC6C_ENST00000301624.4_Missense_Mutation_p.G555D|TNRC6C_ENST00000335749.4_Missense_Mutation_p.G555D			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	555	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.G555D(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GCCAAGAGTGGCCATGCTTGG	0.577																																					p.G555D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1664A	17						.						62.0	69.0	67.0					17																	76046807		2044	4192	6236	73558402	SO:0001583	missense	57690	exon4			AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.1664G>A	17.37:g.76046807G>A	ENSP00000468647:p.Gly555Asp		73558402	NM_018996	G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	37	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.361393	0.61403	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.16897	2.31;2.35;2.35;2.31	5.75	4.78	0.61160	.	0.206706	0.43110	N	0.000604	T	0.39911	0.1096	M	0.65498	2.005	0.80722	D	1	B;D;D	0.89917	0.145;1.0;0.999	B;D;D	0.77004	0.13;0.989;0.943	T	0.20472	-1.0274	10	0.49607	T	0.09	-13.1012	14.8066	0.69962	0.0692:0.0:0.9308:0.0	.	555;555;555	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	D	555	ENSP00000336783:G555D;ENSP00000301624:G555D;ENSP00000440310:G555D;ENSP00000442421:G555D	ENSP00000301624:G555D	G	+	2	0	TNRC6C	73558402	1.000000	0.71417	0.951000	0.38953	0.987000	0.75469	7.189000	0.77747	1.442000	0.47568	-0.140000	0.14226	GGC		0.577	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996	
CTC1	80169	broad.mit.edu	37	17	8136231	8136231	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr17:8136231C>T	ENST00000315684.8	-	11	1945	c.1938G>A	c.(1936-1938)cgG>cgA	p.R646R		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	646					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.R646R(1)		NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						AACCTATCAGCCGTGGGTCAC	0.537																																					p.R646R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1938A	17						.						197.0	202.0	201.0					17																	8136231		1979	4167	6146	8076956	SO:0001819	synonymous_variant	80169	exon11			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.1938G>A	17.37:g.8136231C>T			8076956	NM_025099	B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Silent	SNP	ENST00000315684.8	37	CCDS42259.1																																																																																				0.537	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099	
MYH10	4628	broad.mit.edu	37	17	8417149	8417149	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr17:8417149C>T	ENST00000269243.4	-	20	2613	c.2475G>A	c.(2473-2475)gcG>gcA	p.A825A	RNU7-43P_ENST00000516554.1_RNA|MYH10_ENST00000360416.3_Silent_p.A856A|MYH10_ENST00000396239.1_Silent_p.A846A|MYH10_ENST00000379980.4_Silent_p.A841A	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	825					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.A825A(1)		breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						ATTTCAGGTACGCGGCACAGT	0.468																																					p.A825A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2475A	17						.						58.0	51.0	54.0					17																	8417149		2203	4300	6503	8357874	SO:0001819	synonymous_variant	4628	exon20			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.2475G>A	17.37:g.8417149C>T			8357874	NM_005964	B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Silent	SNP	ENST00000269243.4	37	CCDS11144.1																																																																																				0.468	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2		
NTN1	9423	broad.mit.edu	37	17	9066210	9066210	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr17:9066210G>A	ENST00000173229.2	+	3	1206	c.1099G>A	c.(1099-1101)Gtc>Atc	p.V367I	NTN1_ENST00000538852.1_Missense_Mutation_p.V367I|NTN1_ENST00000546090.1_Missense_Mutation_p.V367I	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	367	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|establishment of nucleus localization (GO:0040023)|inner ear morphogenesis (GO:0042472)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of axon extension (GO:0030517)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of cell proliferation (GO:0008284)|regulation of cell migration (GO:0030334)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)		p.V367I(1)	NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						GAGCGGAGGTGTCTGCCTCAA	0.632																																					p.V367I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1099A	17						.						38.0	32.0	34.0					17																	9066210		2203	4300	6503	9006935	SO:0001583	missense	9423	exon3			U75586	CCDS11148.1	17p13-p12	2013-03-01			ENSG00000065320	ENSG00000065320		"""Netrins"""	8029	protein-coding gene	gene with protein product	"""Netrin-1"""	601614				9950216	Standard	NM_004822		Approved	NTN1L	uc002glw.4	O95631	OTTHUMG00000130257	ENST00000173229.2:c.1099G>A	17.37:g.9066210G>A	ENSP00000173229:p.Val367Ile		9006935	NM_004822	E9KL51	Missense_Mutation	SNP	ENST00000173229.2	37	CCDS11148.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781274	0.90282	.	.	ENSG00000065320	ENST00000173229;ENST00000538852;ENST00000546090	T;T;T	0.62105	0.05;0.05;0.05	4.62	4.62	0.57501	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	T	0.73321	0.3572	L	0.48877	1.53	0.80722	D	1	P	0.40534	0.72	P	0.59357	0.856	T	0.73363	-0.4006	10	0.46703	T	0.11	.	17.8203	0.88648	0.0:0.0:1.0:0.0	.	367	O95631	NET1_HUMAN	I	367	ENSP00000173229:V367I;ENSP00000443259:V367I;ENSP00000441611:V367I	ENSP00000173229:V367I	V	+	1	0	NTN1	9006935	1.000000	0.71417	0.968000	0.41197	0.911000	0.54048	9.324000	0.96373	2.293000	0.77203	0.650000	0.86243	GTC		0.632	NTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252583.1		
RCVRN	5957	broad.mit.edu	37	17	9808338	9808338	+	Missense_Mutation	SNP	C	C	T	rs139258757		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr17:9808338C>T	ENST00000226193.5	-	1	600	c.160G>A	c.(160-162)Gcc>Acc	p.A54T		NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	54	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of calcium ion transport (GO:0051924)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	dendrite (GO:0030425)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)	p.A54T(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						AAGAACTTGGCGTAGATGCTC	0.602																																					p.A54T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G160A	17						.	C	THR/ALA	0,4406		0,0,2203	122.0	90.0	101.0		160	-8.9	0.2	17	dbSNP_134	101	1,8599	1.2+/-3.3	0,1,4299	yes	missense	RCVRN	NM_002903.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	54/201	9808338	1,13005	2203	4300	6503	9749063	SO:0001583	missense	5957	exon1			BC001720	CCDS11151.1	17p13.1	2013-01-10		2006-09-26	ENSG00000109047	ENSG00000109047		"""EF-hand domain containing"""	9937	protein-coding gene	gene with protein product		179618		RCV1		1387789, 12507501, 1467959, 12789533	Standard	NM_002903		Approved		uc002gme.1	P35243	OTTHUMG00000130268	ENST00000226193.5:c.160G>A	17.37:g.9808338C>T	ENSP00000226193:p.Ala54Thr		9749063	NM_002903	Q53XL0	Missense_Mutation	SNP	ENST00000226193.5	37	CCDS11151.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.641983	0.47153	0.0	1.16E-4	ENSG00000109047	ENST00000226193	T	0.21734	1.99	4.67	-8.89	0.00785	EF-hand-like domain (1);	0.446334	0.25388	N	0.031034	T	0.16854	0.0405	L	0.55017	1.72	0.58432	D	0.999999	B	0.18741	0.03	B	0.12156	0.007	T	0.05402	-1.0887	10	0.52906	T	0.07	.	16.4454	0.83928	0.6501:0.3499:0.0:0.0	.	54	P35243	RECO_HUMAN	T	54	ENSP00000226193:A54T	ENSP00000226193:A54T	A	-	1	0	RCVRN	9749063	0.039000	0.19947	0.165000	0.22776	0.778000	0.44026	0.079000	0.14782	-1.181000	0.02730	-0.152000	0.13540	GCC		0.602	RCVRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252600.2	NM_002903	
GAS7	8522	broad.mit.edu	37	17	9822998	9822998	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr17:9822998T>C	ENST00000432992.2	-	12	1323	c.1163A>G	c.(1162-1164)gAt>gGt	p.D388G	GAS7_ENST00000542249.1_Missense_Mutation_p.D324G|GAS7_ENST00000580865.1_Missense_Mutation_p.D248G|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000585266.1_Missense_Mutation_p.D328G|GAS7_ENST00000323816.4_Missense_Mutation_p.D328G|GAS7_ENST00000579158.1_Missense_Mutation_p.D324G|GAS7_ENST00000437099.2_Missense_Mutation_p.D324G|GAS7_ENST00000396115.2_Intron|GAS7_ENST00000583882.1_Intron	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	388					actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D388G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						GTTGTAGAGATCCACACAGCG	0.542			T	MLL	AML*																																p.D248G			Dom	yes		17	17p	8522	growth arrest-specific 7		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A743G	17						.						226.0	194.0	205.0					17																	9822998		2203	4300	6503	9763723	SO:0001583	missense	8522	exon8			AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.1163A>G	17.37:g.9822998T>C	ENSP00000407552:p.Asp388Gly		9763723	NM_003644	A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Missense_Mutation	SNP	ENST00000432992.2	37	CCDS11152.1	.	.	.	.	.	.	.	.	.	.	T	29.1	4.977100	0.92982	.	.	ENSG00000007237	ENST00000323816;ENST00000396115;ENST00000437099;ENST00000432992;ENST00000537970;ENST00000542249;ENST00000541114	T;T	0.55588	0.51;0.93	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.56277	0.1974	N	0.24115	0.695	0.80722	D	1	D;D;D;D	0.89917	0.993;1.0;0.991;1.0	P;D;P;D	0.66716	0.714;0.946;0.73;0.946	T	0.54702	-0.8254	9	.	.	.	-2.2904	13.8739	0.63638	0.0:0.0:0.0:1.0	.	340;328;248;388	B7Z2L1;A8KAC2;O60861-2;O60861	.;.;.;GAS7_HUMAN	G	388;328;327;248;328;37;202	ENSP00000322608:D388G;ENSP00000379421:D328G	.	D	-	2	0	GAS7	9763723	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.807000	0.86032	2.120000	0.65058	0.533000	0.62120	GAT		0.542	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	NM_003644, NM_201432, NM_201433	
TRPV2	51393	broad.mit.edu	37	17	16342983	16342983	+	IGR	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr17:16342983C>T	ENST00000338560.7	+	0	2808				C17orf76-AS1_ENST00000365172.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000391079.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000475953.1_RNA|C17orf76-AS1_ENST00000384229.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|RP11-138I1.3_ENST00000585048.1_lincRNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000483140.1_RNA	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)	p.P95S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GATTGCGTACCCACTGCAGAG	0.502																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	17						.						184.0	176.0	179.0					17																	16342983		2203	4300	6503	16283708	SO:0001628	intergenic_variant	125144	.			AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989		17.37:g.16342983C>T			16283708	.	A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	ENST00000338560.7	37	CCDS32576.1																																																																																				0.502	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113	
KIF2B	84643	broad.mit.edu	37	17	51902014	51902014	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr17:51902014delA	ENST00000268919.4	+	1	1776	c.1620delA	c.(1618-1620)gtafs	p.V540fs		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	540	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)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K542fs*2(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CAAACAGAGTAAAAAAATTAA	0.418																																					p.V540fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1620delA	17						.						67.0	65.0	66.0					17																	51902014		2203	4300	6503	49257013	SO:0001589	frameshift_variant	84643	exon1			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1620delA	17.37:g.51902014delA	ENSP00000268919:p.Val540fs		49257013	NM_032559	Q96MA2|Q9BXG6	Frame_Shift_Del	DEL	ENST00000268919.4	37	CCDS32685.1																																																																																				0.418	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559	
ASPSCR1	79058	broad.mit.edu	37	17	79952744	79952744	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr17:79952744C>T	ENST00000306739.4	+	5	519	c.422C>T	c.(421-423)aCg>aTg	p.T141M	ASPSCR1_ENST00000581647.1_Missense_Mutation_p.T141M|ASPSCR1_ENST00000306729.7_Missense_Mutation_p.T141M|ASPSCR1_ENST00000580534.1_Missense_Mutation_p.T64M	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	141					glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)		p.T141M(2)	ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TGCGTGTACACGAGGGATGAG	0.632			T	TFE3	alveolar soft part sarcoma																																p.T141M			Dom	yes		17	17q25	79058	"""alveolar soft part sarcoma chromosome region, candidate 1"""		M	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C422T	17						.						79.0	83.0	82.0					17																	79952744		2203	4300	6503	77546033	SO:0001583	missense	79058	exon5			AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696		"""UBX domain containing"""	13825	protein-coding gene	gene with protein product	"""UBX domain protein 9"""	606236				11244503, 10506710	Standard	NM_024083		Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306739.4:c.422C>T	17.37:g.79952744C>T	ENSP00000302176:p.Thr141Met		77546033	NM_024083	A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Missense_Mutation	SNP	ENST00000306739.4	37	CCDS11796.1	.	.	.	.	.	.	.	.	.	.	C	3.573	-0.087297	0.07097	.	.	ENSG00000169696	ENST00000306739;ENST00000306729;ENST00000344865	T;T	0.28895	1.59;1.59	4.41	3.34	0.38264	.	0.085246	0.85682	N	0.000000	T	0.07098	0.0180	N	0.00742	-1.23	0.26360	N	0.977055	B;B;B;B;B	0.16396	0.017;0.002;0.017;0.01;0.017	B;B;B;B;B	0.09377	0.004;0.003;0.004;0.001;0.003	T	0.38112	-0.9676	10	0.02654	T	1	-31.9876	7.7696	0.28999	0.0:0.1016:0.0:0.8984	.	64;64;141;141;64	Q9BZE9-3;Q9BZE9-4;Q9BZE9-2;Q9BZE9;C9JAL9	.;.;.;ASPC1_HUMAN;.	M	141;141;64	ENSP00000302176:T141M;ENSP00000306625:T141M	ENSP00000306625:T141M	T	+	2	0	ASPSCR1	77546033	1.000000	0.71417	0.998000	0.56505	0.024000	0.10985	3.422000	0.52749	0.676000	0.31285	-0.367000	0.07326	ACG		0.632	ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441972.1	NM_024083	
NPC1	4864	broad.mit.edu	37	18	21119410	21119410	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr18:21119410C>T	ENST00000269228.5	-	19	3374	c.2820G>A	c.(2818-2820)tcG>tcA	p.S940S	NPC1_ENST00000540608.1_5'Flank|NPC1_ENST00000412552.2_Silent_p.S622S	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	940			S -> L (in NPC1). {ECO:0000269|PubMed:10521290, ECO:0000269|PubMed:11349231, ECO:0000269|PubMed:16126423}.		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.S940S(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)					CGATCCAGGACGAGGGGGCGA	0.493																																					p.S940S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2820A	18						.						63.0	53.0	57.0					18																	21119410		2203	4300	6503	19373408	SO:0001819	synonymous_variant	4864	exon19			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.2820G>A	18.37:g.21119410C>T			19373408	NM_000271	B4DET3|Q9P130	Silent	SNP	ENST00000269228.5	37	CCDS11878.1																																																																																				0.493	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271	
ZNF521	25925	broad.mit.edu	37	18	22806163	22806163	+	Silent	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr18:22806163G>A	ENST00000361524.3	-	4	1867	c.1719C>T	c.(1717-1719)agC>agT	p.S573S	ZNF521_ENST00000584787.1_Silent_p.S353S|ZNF521_ENST00000538137.2_Silent_p.S573S|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	573					cell differentiation (GO:0030154)|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)|protein domain specific binding (GO:0019904)	p.S573S(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GTTTAAGAACGCTGTTGAATA	0.433			T	PAX5	ALL																																p.S573S			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1719T	18						.						120.0	123.0	122.0					18																	22806163		2203	4300	6503	21060161	SO:0001819	synonymous_variant	25925	exon4			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1719C>T	18.37:g.22806163G>A			21060161	NM_015461	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	ENST00000361524.3	37	CCDS32806.1																																																																																				0.433	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461	
GAREM	64762	broad.mit.edu	37	18	29848667	29848667	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr18:29848667G>A	ENST00000269209.6	-	6	1801	c.1798C>T	c.(1798-1800)Cga>Tga	p.R600*	GAREM_ENST00000399218.4_Nonsense_Mutation_p.R599*			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	600					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.R599*(1)									GTTTTCACTCGGTTACATGGA	0.448																																					p.R599X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1795T	18						.						79.0	78.0	78.0					18																	29848667		2203	4300	6503	28102665	SO:0001587	stop_gained	64762	exon6			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.1798C>T	18.37:g.29848667G>A	ENSP00000269209:p.Arg600*		28102665	NM_022751	Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Nonsense_Mutation	SNP	ENST00000269209.6	37	CCDS56057.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411868	0.83340	.	.	ENSG00000141441	ENST00000399218;ENST00000269209	.	.	.	5.85	4.9	0.64082	.	0.178938	0.50627	D	0.000105	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-2.7643	6.6863	0.23146	0.0911:0.0:0.6343:0.2746	.	.	.	.	X	599;600	.	ENSP00000269209:R600X	R	-	1	2	FAM59A	28102665	1.000000	0.71417	0.077000	0.20336	0.299000	0.27559	3.550000	0.53691	2.780000	0.95670	0.650000	0.86243	CGA		0.448	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751	
DLGAP1	9229	broad.mit.edu	37	18	3729202	3729202	+	Silent	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr18:3729202G>A	ENST00000315677.3	-	7	2119	c.1524C>T	c.(1522-1524)tgC>tgT	p.C508C	DLGAP1_ENST00000539435.1_Silent_p.C206C|DLGAP1_ENST00000400149.3_Silent_p.C216C|DLGAP1_ENST00000400150.3_Silent_p.C214C|DLGAP1_ENST00000584874.1_Silent_p.C508C|DLGAP1_ENST00000400155.1_Silent_p.C214C|DLGAP1_ENST00000400145.2_Silent_p.C206C|DLGAP1_ENST00000400147.2_Silent_p.C206C|DLGAP1_ENST00000581699.1_Silent_p.C214C|DLGAP1_ENST00000515196.2_Silent_p.C508C|DLGAP1_ENST00000581527.1_Silent_p.C508C|DLGAP1_ENST00000534970.1_Silent_p.C220C|DLGAP1_ENST00000478161.1_5'UTR	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	508					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)		p.C508C(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				TCAGGGACACGCACTCGTCGT	0.692																																					p.C206C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C618T	18						.						55.0	42.0	46.0					18																	3729202		2203	4299	6502	3719202	SO:0001819	synonymous_variant	9229	exon4			AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.1524C>T	18.37:g.3729202G>A			3719202	NM_001003809	A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Silent	SNP	ENST00000315677.3	37	CCDS11836.1																																																																																				0.692	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4		
ASXL3	80816	broad.mit.edu	37	18	31325827	31325827	+	Silent	SNP	T	T	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr18:31325827T>A	ENST00000269197.5	+	12	6015	c.6015T>A	c.(6013-6015)acT>acA	p.T2005T		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	2005					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.T2005T(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGGGAGGCACTGCACACACAA	0.592																																					p.T2005T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T6015A	18						.						86.0	91.0	89.0					18																	31325827		2063	4192	6255	29579825	SO:0001819	synonymous_variant	80816	exon12			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.6015T>A	18.37:g.31325827T>A			29579825	NM_030632	Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	ENST00000269197.5	37	CCDS45847.1																																																																																				0.592	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2		
EPG5	57724	broad.mit.edu	37	18	43523265	43523265	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr18:43523265G>A	ENST00000282041.5	-	9	1839	c.1805C>T	c.(1804-1806)cCt>cTt	p.P602L		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	602					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.P602L(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TGTTGTTTCAGGTAAATAATC	0.338																																					p.P602L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1805T	18						.						88.0	85.0	86.0					18																	43523265		1820	4084	5904	41777263	SO:0001583	missense	57724	exon9			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.1805C>T	18.37:g.43523265G>A	ENSP00000282041:p.Pro602Leu		41777263	NM_020964	A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301896	0.81136	.	.	ENSG00000152223	ENST00000282041	T	0.11063	2.81	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.25306	0.0615	L	0.56769	1.78	0.80722	D	1	P;P	0.46327	0.876;0.876	P;P	0.53313	0.723;0.723	T	0.00374	-1.1780	10	0.62326	D	0.03	-7.3213	18.7812	0.91933	0.0:0.0:1.0:0.0	.	602;602	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	L	602	ENSP00000282041:P602L	ENSP00000282041:P602L	P	-	2	0	EPG5	41777263	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.608000	0.90895	2.426000	0.82243	0.455000	0.32223	CCT		0.338	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964	
ST8SIA5	29906	broad.mit.edu	37	18	44268780	44268780	+	Silent	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr18:44268780G>A	ENST00000315087.7	-	4	1074	c.414C>T	c.(412-414)ggC>ggT	p.G138G	ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Silent_p.G174G|ST8SIA5_ENST00000536490.1_Silent_p.G107G	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	138					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.G138G(1)		kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						TGTGGTAGATGCCACTGGTGT	0.592																																					p.G138G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C414T	18						.						198.0	168.0	178.0					18																	44268780		2203	4300	6503	42522778	SO:0001819	synonymous_variant	29906	exon4			U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"""Sialyltransferases"""	17827	protein-coding gene	gene with protein product	"""ST8Sia V"""	607162	"""sialyltransferase 8E (alpha-2, 8-polysialytransferase)"""	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.414C>T	18.37:g.44268780G>A			42522778	NM_013305	B7Z1K9|Q6IAW7	Silent	SNP	ENST00000315087.7	37	CCDS11930.1																																																																																				0.592	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	NM_013305	
ZBTB14	7541	broad.mit.edu	37	18	5291118	5291118	+	Silent	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr18:5291118G>A	ENST00000357006.4	-	4	1427	c.1089C>T	c.(1087-1089)tgC>tgT	p.C363C	ZBTB14_ENST00000400143.3_Silent_p.C363C	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1	O43829	ZBT14_HUMAN	zinc finger and BTB domain containing 14	363					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|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)|transcription regulatory region DNA binding (GO:0044212)	p.C363C(1)									CACACATGTGGCACGCAAACG	0.463																																					p.C363C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1089T	18						.						195.0	170.0	179.0					18																	5291118		2203	4300	6503	5281118	SO:0001819	synonymous_variant	7541	exon3			D89859	CCDS11837.1	18p11.31	2013-09-19	2013-01-08	2013-01-08	ENSG00000198081	ENSG00000198081		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12860	protein-coding gene	gene with protein product		602126	"""zinc finger protein 161 homolog (mouse)"", ""zinc finger protein 161"", ""ZFP161 zinc finger protein"""	ZFP161		9244432	Standard	NM_001243702		Approved	ZNF478	uc010dkp.3	O43829	OTTHUMG00000131563	ENST00000357006.4:c.1089C>T	18.37:g.5291118G>A			5281118	NM_003409	O00403|Q2TB80	Silent	SNP	ENST00000357006.4	37	CCDS11837.1																																																																																				0.463	ZBTB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254425.1	NM_003409	
SMAD4	4089	broad.mit.edu	37	18	48604776	48604776	+	Missense_Mutation	SNP	T	T	G	rs377767382		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr18:48604776T>G	ENST00000342988.3	+	12	2136	c.1598T>G	c.(1597-1599)cTc>cGc	p.L533R	SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Missense_Mutation_p.L533R|SMAD4_ENST00000588745.1_Missense_Mutation_p.L437R	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	533	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)|p.L533R(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CACCGGGCCCTCCAGCTCCTA	0.488																																					p.L533R												SMAD4,large_intestine,NS,Substitution - Missense,+1 	.	39	Whole gene deletion(36)|Unknown(2)|Substitution - Missense(1)	pancreas(26)|large_intestine(4)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	c.T1598G	18	GRCh37	CM040451	SMAD4	M		.						81.0	83.0	83.0					18																	48604776		2203	4300	6503	46858774	SO:0001583	missense	4089	exon12			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1598T>G	18.37:g.48604776T>G	ENSP00000341551:p.Leu533Arg		46858774	NM_005359	A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	T	19.10	3.762023	0.69763	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	D;D	0.98207	-4.79;-4.79	6.07	6.07	0.98685	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (1);	0.000000	0.85682	D	0.000000	D	0.99217	0.9728	M	0.93150	3.385	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99177	1.0866	10	0.87932	D	0	.	15.6232	0.76824	0.0:0.0:0.0:1.0	.	533	Q13485	SMAD4_HUMAN	R	533	ENSP00000341551:L533R;ENSP00000381452:L533R	ENSP00000341551:L533R	L	+	2	0	SMAD4	46858774	1.000000	0.71417	0.982000	0.44146	0.990000	0.78478	7.856000	0.86956	2.326000	0.78906	0.533000	0.62120	CTC		0.488	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359	
LAMA1	284217	broad.mit.edu	37	18	7010271	7010271	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr18:7010271C>T	ENST00000389658.3	-	26	3894	c.3801G>A	c.(3799-3801)aaG>aaA	p.K1267K		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1267	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.K1267K(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				AAATGACTTGCTTTCTGATCC	0.463																																					p.K1267K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3801A	18						.						180.0	156.0	164.0					18																	7010271		2203	4300	6503	7000271	SO:0001819	synonymous_variant	284217	exon26			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.3801G>A	18.37:g.7010271C>T			7000271	NM_005559		Silent	SNP	ENST00000389658.3	37	CCDS32787.1																																																																																				0.463	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
VPS4B	9525	broad.mit.edu	37	18	61078729	61078729	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr18:61078729G>T	ENST00000238497.5	-	2	313	c.110C>A	c.(109-111)gCt>gAt	p.A37D	VPS4B_ENST00000591519.1_Missense_Mutation_p.A37D	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	37	MIT.				ATP catabolic process (GO:0006200)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|intracellular cholesterol transport (GO:0032367)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|response to lipid (GO:0033993)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)|vacuolar membrane (GO:0005774)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)	p.A37D(1)		breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						ATACTGCACAGCATGCTGATA	0.383																																					p.A37D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C110A	18						.						109.0	102.0	104.0					18																	61078729		2203	4300	6503	59229709	SO:0001583	missense	9525	exon2			AF038960	CCDS11983.1	18q21.33	2010-04-21	2006-04-04	2002-06-14	ENSG00000119541	ENSG00000119541		"""ATPases / AAA-type"""	10895	protein-coding gene	gene with protein product		609983	"""suppressor of K+ transport defect 1"", ""vacuolar protein sorting 4B (yeast)"""	SKD1		11563910	Standard	XM_006722582		Approved	VPS4-2, SKD1B	uc002lix.3	O75351	OTTHUMG00000132790	ENST00000238497.5:c.110C>A	18.37:g.61078729G>T	ENSP00000238497:p.Ala37Asp		59229709	NM_004869	Q69HW4|Q9GZS7	Missense_Mutation	SNP	ENST00000238497.5	37	CCDS11983.1	.	.	.	.	.	.	.	.	.	.	G	35	5.413934	0.96072	.	.	ENSG00000119541	ENST00000238497	T	0.81415	-1.49	6.06	6.06	0.98353	MIT (2);	0.098209	0.64402	D	0.000001	D	0.92179	0.7520	H	0.95365	3.66	0.80722	D	1	P;P	0.49447	0.924;0.873	P;P	0.56648	0.803;0.685	D	0.93410	0.6768	10	0.87932	D	0	-22.5922	20.2348	0.98355	0.0:0.0:1.0:0.0	.	37;37	A8K4G7;O75351	.;VPS4B_HUMAN	D	37	ENSP00000238497:A37D	ENSP00000238497:A37D	A	-	2	0	VPS4B	59229709	1.000000	0.71417	0.996000	0.52242	0.936000	0.57629	9.278000	0.95766	2.880000	0.98712	0.650000	0.86243	GCT		0.383	VPS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256198.2	NM_004869	
ZNF236	7776	broad.mit.edu	37	18	74631885	74631885	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr18:74631885A>G	ENST00000253159.8	+	20	3620	c.3422A>G	c.(3421-3423)cAg>cGg	p.Q1141R	ZNF236_ENST00000320610.9_Missense_Mutation_p.Q1143R	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1141					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.Q1141R(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)		GTCCTGGTGCAGTCCGCGGCA	0.617																																					p.Q1141R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A3422G	18						.						45.0	50.0	48.0					18																	74631885		2154	4258	6412	72760873	SO:0001583	missense	7776	exon20			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.3422A>G	18.37:g.74631885A>G	ENSP00000253159:p.Gln1141Arg		72760873	NM_007345	B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.717025	0.89205	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.11604	2.76;2.92	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.31575	0.0801	M	0.65975	2.015	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.01121	-1.1445	10	0.49607	T	0.09	.	16.0431	0.80698	1.0:0.0:0.0:0.0	.	1141	Q9UL36	ZN236_HUMAN	R	1141	ENSP00000253159:Q1141R;ENSP00000444524:Q1141R	ENSP00000253159:Q1141R	Q	+	2	0	ZNF236	72760873	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	8.999000	0.93557	2.192000	0.70111	0.477000	0.44152	CAG		0.617	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1		
DNMT1	1786	broad.mit.edu	37	19	10250386	10250386	+	Missense_Mutation	SNP	C	C	T	rs564106859		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:10250386C>T	ENST00000340748.4	-	33	4101	c.3866G>A	c.(3865-3867)cGc>cAc	p.R1289H	DNMT1_ENST00000540357.1_Missense_Mutation_p.R1289H|DNMT1_ENST00000359526.4_Missense_Mutation_p.R1305H|DNMT1_ENST00000589538.1_5'Flank			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1289	Catalytic.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.|SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R1289H(1)		breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	ATAGCCCATGCGGACCAGGCA	0.647													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18696	0.0		0.0	False		,,,				2504	0.0				p.R1305H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3914A	19						.						59.0	52.0	54.0					19																	10250386		2203	4300	6503	10111386	SO:0001583	missense	1786	exon34			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.3866G>A	19.37:g.10250386C>T	ENSP00000345739:p.Arg1289His		10111386	NM_001130823	A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.717524	0.89205	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.44083	0.93;0.93;0.93	5.2	4.17	0.49024	.	0.121674	0.64402	D	0.000011	T	0.60573	0.2279	M	0.67397	2.05	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72338	0.961;0.961;0.977	T	0.64097	-0.6487	10	0.72032	D	0.01	.	12.6228	0.56614	0.0:0.9173:0.0:0.0827	.	1289;1305;1289	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	H	1305;1289;1289;1157	ENSP00000352516:R1305H;ENSP00000440457:R1289H;ENSP00000345739:R1289H	ENSP00000345739:R1289H	R	-	2	0	DNMT1	10111386	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.349000	0.79376	1.196000	0.43129	0.558000	0.71614	CGC		0.647	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379	
KRI1	65095	broad.mit.edu	37	19	10668648	10668648	+	Splice_Site	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:10668648G>A	ENST00000312962.6	-	14	1396	c.1377C>T	c.(1375-1377)aaC>aaT	p.N459N	KRI1_ENST00000361821.5_Splice_Site_p.N455N	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	453						nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.N459N(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TGATACCTACGTTGAAGTTGG	0.652																																					p.N459N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1377T	19						.						52.0	50.0	50.0					19																	10668648		2203	4300	6503	10529648	SO:0001630	splice_region_variant	65095	exon14				CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.1377+1C>T	19.37:g.10668648G>A			10529648	NM_023008	Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Silent	SNP	ENST00000312962.6	37	CCDS12242.1																																																																																				0.652	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1	NM_023008	Silent
DHPS	1725	broad.mit.edu	37	19	12790515	12790515	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:12790515C>T	ENST00000210060.7	-	4	648	c.513G>A	c.(511-513)gtG>gtA	p.V171V	DHPS_ENST00000594424.1_Silent_p.V129V|DHPS_ENST00000599481.1_5'UTR|DHPS_ENST00000351660.5_Silent_p.V171V|CTD-2192J16.26_ENST00000593554.1_lincRNA	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	171					cellular protein metabolic process (GO:0044267)|deoxyhypusine biosynthetic process from spermidine (GO:0050983)|glucose homeostasis (GO:0042593)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell proliferation (GO:0042102)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|translation (GO:0006412)	cytosol (GO:0005829)	deoxyhypusine synthase activity (GO:0034038)	p.V171V(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8						TCTCATTGGGCACCAGCAGGT	0.582																																					p.V171V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G513A	19						.						143.0	143.0	143.0					19																	12790515		2203	4300	6503	12651515	SO:0001819	synonymous_variant	1725	exon4			U79262	CCDS12276.1, CCDS12277.1, CCDS59354.1	19p13.2	2011-11-24			ENSG00000095059	ENSG00000095059			2869	protein-coding gene	gene with protein product	"""migration-inducing gene 13"""	600944				7673224	Standard	NM_001930		Approved	MIG13	uc002muh.2	P49366		ENST00000210060.7:c.513G>A	19.37:g.12790515C>T			12651515	NM_001930	A8K688|M0R1I5|Q13184|Q13276|Q9UDG0	Silent	SNP	ENST00000210060.7	37	CCDS12276.1																																																																																				0.582	DHPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462708.1	NM_001930	
IL27RA	9466	broad.mit.edu	37	19	14162724	14162724	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:14162724G>A	ENST00000263379.2	+	13	1780	c.1655G>A	c.(1654-1656)cGc>cAc	p.R552H		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	552					cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)	p.R552H(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						GTGCTGCCCCGCTGGGTCTGG	0.622																																					p.R552H	Colon(164;1849 1896 4443 37792 47834)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1655A	19						.						32.0	29.0	30.0					19																	14162724		2202	4296	6498	14023724	SO:0001583	missense	9466	exon13			AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	17290	protein-coding gene	gene with protein product	"""T-cell cytokine receptor type 1"""	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.1655G>A	19.37:g.14162724G>A	ENSP00000263379:p.Arg552His		14023724	NM_004843	A0N0L1|O60624	Missense_Mutation	SNP	ENST00000263379.2	37	CCDS12303.1	.	.	.	.	.	.	.	.	.	.	G	4.774	0.143843	0.09134	.	.	ENSG00000104998	ENST00000263379	T	0.26518	1.73	4.83	-2.39	0.06602	.	0.146846	0.29073	N	0.013239	T	0.11965	0.0291	N	0.20685	0.6	0.09310	N	0.99999	B	0.06786	0.001	B	0.01281	0.0	T	0.32025	-0.9922	10	0.16420	T	0.52	-20.3768	9.2378	0.37477	0.599:0.0:0.401:0.0	.	552	Q6UWB1	I27RA_HUMAN	H	552	ENSP00000263379:R552H	ENSP00000263379:R552H	R	+	2	0	IL27RA	14023724	0.066000	0.20996	0.279000	0.24732	0.162000	0.22319	0.011000	0.13264	-0.236000	0.09753	0.450000	0.29827	CGC		0.622	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458539.1	NM_004843	
IL27RA	9466	broad.mit.edu	37	19	14163010	14163010	+	Missense_Mutation	SNP	G	G	A	rs376141649		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:14163010G>A	ENST00000263379.2	+	14	1944	c.1819G>A	c.(1819-1821)Gcc>Acc	p.A607T		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	607					cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)	p.A607T(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CCAGGCCACCGCCCCGCTTGA	0.667													g|||	1	0.000199681	0.0	0.0	5008	,	,		13210	0.0		0.0	False		,,,				2504	0.001				p.A607T	Colon(164;1849 1896 4443 37792 47834)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1819A	19						.						24.0	24.0	24.0					19																	14163010		2203	4300	6503	14024010	SO:0001583	missense	9466	exon14			AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	17290	protein-coding gene	gene with protein product	"""T-cell cytokine receptor type 1"""	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.1819G>A	19.37:g.14163010G>A	ENSP00000263379:p.Ala607Thr		14024010	NM_004843	A0N0L1|O60624	Missense_Mutation	SNP	ENST00000263379.2	37	CCDS12303.1	.	.	.	.	.	.	.	.	.	.	G	4.969	0.179990	0.09443	.	.	ENSG00000104998	ENST00000263379	T	0.26660	1.72	5.28	-2.98	0.05513	.	1.299180	0.05380	N	0.536965	T	0.13713	0.0332	N	0.19112	0.55	0.09310	N	1	B	0.17667	0.023	B	0.06405	0.002	T	0.28776	-1.0033	10	0.17832	T	0.49	-5.1146	6.1364	0.20235	0.151:0.0:0.5276:0.3214	.	607	Q6UWB1	I27RA_HUMAN	T	607	ENSP00000263379:A607T	ENSP00000263379:A607T	A	+	1	0	IL27RA	14024010	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.863000	0.04259	-0.600000	0.05790	0.457000	0.33378	GCC		0.667	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458539.1	NM_004843	
CYP4F3	4051	broad.mit.edu	37	19	15760902	15760902	+	Missense_Mutation	SNP	G	G	A	rs113330239		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:15760902G>A	ENST00000221307.8	+	7	874	c.827G>A	c.(826-828)cGc>cAc	p.R276H	CYP4F3_ENST00000585846.1_Missense_Mutation_p.R276H|CYP4F3_ENST00000586182.2_Missense_Mutation_p.R276H|CYP4F3_ENST00000591058.1_Missense_Mutation_p.R276H	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	276					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)	p.R276H(1)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GAGCGGCGCCGCACCCTCCCT	0.577													.|||	1	0.000199681	0.0008	0.0	5008	,	,		18604	0.0		0.0	False		,,,				2504	0.0				p.R276H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G827A	19						.						106.0	96.0	99.0					19																	15760902		2203	4300	6503	15621902	SO:0001583	missense	4051	exon7			AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.827G>A	19.37:g.15760902G>A	ENSP00000221307:p.Arg276His		15621902	NM_001199209	B7Z8Z3|O60634|Q5U740	Missense_Mutation	SNP	ENST00000221307.8	37	CCDS12332.1	.	.	.	.	.	.	.	.	.	.	.	14.12	2.441442	0.43326	.	.	ENSG00000186529	ENST00000538865;ENST00000221307	T	0.69561	-0.41	3.99	-0.166	0.13351	.	0.712480	0.12645	U	0.450940	T	0.63117	0.2484	M	0.77406	2.37	0.09310	N	1	B;B	0.13145	0.007;0.001	B;B	0.19148	0.015;0.024	T	0.58188	-0.7680	10	0.52906	T	0.07	.	7.3165	0.26503	0.4513:0.0:0.5487:0.0	.	276;276	B7Z8Z3;Q08477	.;CP4F3_HUMAN	H	203;276	ENSP00000221307:R276H	ENSP00000221307:R276H	R	+	2	0	CYP4F3	15621902	0.000000	0.05858	0.009000	0.14445	0.817000	0.46193	-1.012000	0.03649	0.173000	0.19788	0.313000	0.20887	CGC		0.577	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896	
OR10H4	126541	broad.mit.edu	37	19	16059953	16059953	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:16059953A>G	ENST00000322107.1	+	1	136	c.136A>G	c.(136-138)Atc>Gtc	p.I46V		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I46V(1)		breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						CAACCTTCTCATCATGGCCAC	0.517																																					p.I46V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A136G	19						.						351.0	319.0	329.0					19																	16059953		2203	4300	6503	15920953	SO:0001583	missense	126541	exon1			AC011517	CCDS32941.1	19p13.12	2013-09-24			ENSG00000176231	ENSG00000176231		"""GPCR / Class A : Olfactory receptors"""	15388	protein-coding gene	gene with protein product							Standard	NM_001004465		Approved		uc010xov.2	Q8NGA5	OTTHUMG00000182268	ENST00000322107.1:c.136A>G	19.37:g.16059953A>G	ENSP00000318834:p.Ile46Val		15920953	NM_001004465	Q6IFJ2|Q96R57	Missense_Mutation	SNP	ENST00000322107.1	37	CCDS32941.1	.	.	.	.	.	.	.	.	.	.	a	7.832	0.720144	0.15372	.	.	ENSG00000176231	ENST00000322107	T	0.01767	4.65	0.97	0.97	0.19692	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41500	U	0.000871	T	0.06690	0.0171	M	0.79123	2.44	0.09310	N	1	D	0.67145	0.996	D	0.81914	0.995	T	0.11084	-1.0602	10	0.66056	D	0.02	.	3.8059	0.08777	0.6006:0.3993:0.0:0.0	.	46	Q8NGA5	O10H4_HUMAN	V	46	ENSP00000318834:I46V	ENSP00000318834:I46V	I	+	1	0	OR10H4	15920953	0.614000	0.27017	0.974000	0.42286	0.349000	0.29174	0.849000	0.27723	0.691000	0.31592	0.386000	0.25728	ATC		0.517	OR10H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460311.1		
MAST3	23031	broad.mit.edu	37	19	18235113	18235113	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:18235113C>T	ENST00000262811.6	+	9	795	c.795C>T	c.(793-795)atC>atT	p.I265I	MAST3_ENST00000608648.1_3'UTR	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	265							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.I287I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TCAGCTTCATCGTCCAGCTTG	0.617																																					p.I265I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C795T	19						.						70.0	75.0	73.0					19																	18235113		2155	4250	6405	18096113	SO:0001819	synonymous_variant	23031	exon9			AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.795C>T	19.37:g.18235113C>T			18096113	NM_015016	Q7LDZ8|Q9UPI0	Silent	SNP	ENST00000262811.6	37	CCDS46014.1																																																																																				0.617	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150	
THEG	51298	broad.mit.edu	37	19	375761	375761	+	Silent	SNP	G	G	A	rs142850072	byFrequency	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:375761G>A	ENST00000342640.4	-	1	252	c.210C>T	c.(208-210)gcC>gcT	p.A70A	THEG_ENST00000346878.2_Silent_p.A70A	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	70					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)		p.A70A(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTCCTCCCCGGCCACCTCCT	0.602													G|||	8	0.00159744	0.0	0.0014	5008	,	,		15580	0.0		0.0	False		,,,				2504	0.0072				p.A70A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C210T	19						.	G	,	1,4405	2.1+/-5.4	0,1,2202	74.0	85.0	81.0		210,210	-4.6	0.0	19	dbSNP_134	81	12,8588	9.1+/-34.3	0,12,4288	no	coding-synonymous,coding-synonymous	THEG	NM_016585.3,NM_199202.1	,	0,13,6490	AA,AG,GG		0.1395,0.0227,0.1	,	70/380,70/356	375761	13,12993	2203	4300	6503	326761	SO:0001819	synonymous_variant	51298	exon1			AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"""cancer/testis antigen 56"""	609503	"""Theg homolog (mouse)"""			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.210C>T	19.37:g.375761G>A			326761	NM_199202	A6NMJ8	Silent	SNP	ENST00000342640.4	37	CCDS12025.1																																																																																				0.602	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2		
UPF1	5976	broad.mit.edu	37	19	18962987	18962987	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:18962987T>C	ENST00000599848.1	+	6	1063	c.854T>C	c.(853-855)gTg>gCg	p.V285A	UPF1_ENST00000600310.1_3'UTR|UPF1_ENST00000262803.5_Missense_Mutation_p.V285A			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	285	Sufficient for interaction with RENT2.				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.V285A(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						AAGCCGGGGGTGGACGAGGAG	0.582																																					p.V285A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T854C	19						.						65.0	59.0	61.0					19																	18962987		2203	4300	6503	18823987	SO:0001583	missense	5976	exon6			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.854T>C	19.37:g.18962987T>C	ENSP00000470142:p.Val285Ala		18823987	NM_002911	O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37		.	.	.	.	.	.	.	.	.	.	T	16.34	3.096993	0.56075	.	.	ENSG00000005007	ENST00000262803	D	0.89810	-2.57	5.19	5.19	0.71726	.	0.065614	0.64402	D	0.000009	D	0.84224	0.5425	L	0.38531	1.155	0.80722	D	1	B;B	0.15719	0.004;0.014	B;B	0.21708	0.016;0.036	T	0.79727	-0.1682	10	0.32370	T	0.25	-34.171	14.2103	0.65759	0.0:0.0:0.0:1.0	.	285;285	Q92900;Q92900-2	RENT1_HUMAN;.	A	285	ENSP00000262803:V285A	ENSP00000262803:V285A	V	+	2	0	UPF1	18823987	1.000000	0.71417	0.971000	0.41717	0.905000	0.53344	7.687000	0.84139	1.958000	0.56883	0.459000	0.35465	GTG		0.582	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911	
SHD	56961	broad.mit.edu	37	19	4280205	4280205	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:4280205G>A	ENST00000543264.2	+	1	1608	c.145G>A	c.(145-147)Gcg>Acg	p.A49T	SHD_ENST00000599689.1_Missense_Mutation_p.A49T	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	49								p.A49T(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)		CTATGAGGACGCGGAGAGCCG	0.672																																					p.A49T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G145A	19						.						21.0	26.0	25.0					19																	4280205		2202	4299	6501	4231205	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.145G>A	19.37:g.4280205G>A	ENSP00000446058:p.Ala49Thr		4231205	NM_020209	Q96NC2	Missense_Mutation	SNP	ENST00000543264.2	37	CCDS12125.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.850383	0.32699	.	.	ENSG00000105251	ENST00000543264	T	0.31510	1.49	4.6	0.974	0.19715	.	1.878220	0.03021	N	0.150815	T	0.19886	0.0478	N	0.14661	0.345	0.09310	N	0.999995	B	0.09022	0.002	B	0.10450	0.005	T	0.20538	-1.0272	10	0.23302	T	0.38	-11.9006	7.8849	0.29644	0.0:0.1413:0.3564:0.5022	.	49	Q96IW2	SHD_HUMAN	T	49	ENSP00000446058:A49T	ENSP00000446058:A49T	A	+	1	0	SHD	4231205	0.003000	0.15002	0.490000	0.27465	0.480000	0.33159	-0.146000	0.10250	0.055000	0.16094	-0.516000	0.04426	GCG		0.672	SHD-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458082.1	NM_020209	
FFAR3	2865	broad.mit.edu	37	19	35850518	35850518	+	Silent	SNP	C	C	T	rs147416906		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:35850518C>T	ENST00000327809.4	+	2	927	c.726C>T	c.(724-726)aaC>aaT	p.N242N	FFAR3_ENST00000594310.1_Silent_p.N242N	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	242					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)	p.N242N(1)|p.N242K(1)		endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GGCCCTACAACGTGTCCCATG	0.632																																					p.N242N	Esophageal Squamous(185;1742 2042 21963 24215 27871)											.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	c.C726T	19						.	T		0,4402		0,0,2201	172.0	130.0	144.0		726	-8.3	0.0	19	dbSNP_134	144	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	FFAR3	NM_005304.3		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		242/347	35850518	1,12995	2201	4297	6498	40542358	SO:0001819	synonymous_variant	2865	exon2			AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"""GPCR / Class A : Fatty acid receptors"""	4499	protein-coding gene	gene with protein product		603821	"""G protein-coupled receptor 41"""	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.726C>T	19.37:g.35850518C>T			40542358	NM_005304	B2RWM8|Q14CM7	Silent	SNP	ENST00000327809.4	37	CCDS12459.1																																																																																				0.632	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418873.2	NM_005304	
HKR1	284459	broad.mit.edu	37	19	37853703	37853703	+	Nonsense_Mutation	SNP	C	C	T	rs200823279		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:37853703C>T	ENST00000324411.4	+	6	1275	c.1006C>T	c.(1006-1008)Cga>Tga	p.R336*	HKR1_ENST00000591134.1_Intron|HKR1_ENST00000541583.2_Nonsense_Mutation_p.R275*|HKR1_ENST00000392153.3_Nonsense_Mutation_p.R317*|HKR1_ENST00000544914.1_Nonsense_Mutation_p.R63*|HKR1_ENST00000591471.1_Nonsense_Mutation_p.R63*|HKR1_ENST00000589392.1_Nonsense_Mutation_p.R318*	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	336					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.R336*(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGATTGTGGACGAGGCTTTAC	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		22727	0.0		0.001	False		,,,				2504	0.0				p.R336X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1006T	19						.						104.0	97.0	100.0					19																	37853703		2203	4300	6503	42545543	SO:0001587	stop_gained	284459	exon6			M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"""Zinc fingers, C2H2-type"", ""-"""	4928	protein-coding gene	gene with protein product	"""oncogene HKR1"""	165250	"""GLI-Kruppel family member HKR1"""			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.1006C>T	19.37:g.37853703C>T	ENSP00000315505:p.Arg336*		42545543	NM_181786	A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Nonsense_Mutation	SNP	ENST00000324411.4	37	CCDS12502.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	37	6.193945	0.97367	.	.	ENSG00000181666	ENST00000544914;ENST00000392153;ENST00000542144;ENST00000324411;ENST00000541583	.	.	.	3.05	0.565	0.17309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-3.1516	8.8816	0.35378	0.6263:0.3737:0.0:0.0	.	.	.	.	X	63;317;372;336;275	.	ENSP00000315505:R336X	R	+	1	2	HKR1	42545543	0.001000	0.12720	0.991000	0.47740	0.995000	0.86356	0.639000	0.24690	0.600000	0.29862	0.650000	0.86243	CGA		0.507	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458375.1	NM_181786	
CATSPERG	57828	broad.mit.edu	37	19	38851234	38851234	+	Missense_Mutation	SNP	G	G	A	rs202186909		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:38851234G>A	ENST00000409235.3	+	15	1829	c.1714G>A	c.(1714-1716)Gca>Aca	p.A572T	CATSPERG_ENST00000410018.1_Missense_Mutation_p.A532T|CATSPERG_ENST00000215069.4_3'UTR|AC005625.1_ENST00000590304.1_RNA	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	572					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)		p.A212T(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CTCTCTCTACGCATCCAATGA	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		21361	0.001		0.0	False		,,,				2504	0.0				p.A572T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1714A	19						.						131.0	122.0	125.0					19																	38851234		2203	4300	6503	43543074	SO:0001583	missense	57828	exon15			AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.1714G>A	19.37:g.38851234G>A	ENSP00000386962:p.Ala572Thr		43543074	NM_021185	A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	CCDS12514.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	15.26	2.781080	0.49891	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T;T	0.32515	1.87;1.87;1.45	4.89	-4.12	0.03916	.	1.506900	0.04123	N	0.316654	T	0.13798	0.0334	N	0.22421	0.69	0.09310	N	0.999999	B;B	0.27117	0.168;0.168	B;B	0.16722	0.016;0.016	T	0.16748	-1.0392	10	0.05833	T	0.94	-14.7312	3.9721	0.09457	0.3179:0.0:0.1983:0.4837	.	572;532	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	T	532;572;572	ENSP00000387057:A532T;ENSP00000386962:A572T;ENSP00000386950:A572T	ENSP00000386962:A572T	A	+	1	0	CATSPERG	43543074	0.001000	0.12720	0.003000	0.11579	0.069000	0.16628	-0.238000	0.08977	-0.364000	0.08088	0.467000	0.42956	GCA		0.587	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185	
PSMD8	5714	broad.mit.edu	37	19	38869973	38869973	+	Silent	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:38869973G>A	ENST00000215071.4	+	4	696	c.630G>A	c.(628-630)acG>acA	p.T210T	PSMD8_ENST00000592035.1_Silent_p.T43T|PSMD8_ENST00000602911.1_Silent_p.T147T	NM_002812.4	NP_002803.2	P48556	PSMD8_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 8	210					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)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)		p.T117T(1)		central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(1)	6	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGTTCCACACGGAGTTGGAGC	0.602																																					p.T210T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G630A	19						.						70.0	63.0	66.0					19																	38869973		2203	4300	6503	43561813	SO:0001819	synonymous_variant	5714	exon4			D38047	CCDS12515.2	19q13.2	2009-05-07			ENSG00000099341	ENSG00000099341		"""Proteasome (prosome, macropain) subunits"""	9566	protein-coding gene	gene with protein product						7621825	Standard	NM_002812		Approved	S14, Nin1p, p31, HIP6, HYPF, Rpn12	uc002oii.4	P48556	OTTHUMG00000150691	ENST00000215071.4:c.630G>A	19.37:g.38869973G>A			43561813	NM_002812	B4DX18|Q6P1L7	Silent	SNP	ENST00000215071.4	37	CCDS12515.2																																																																																				0.602	PSMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319627.1	NM_002812	
GGN	199720	broad.mit.edu	37	19	38876836	38876836	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:38876836C>T	ENST00000334928.6	-	3	1198	c.1066G>A	c.(1066-1068)Gct>Act	p.A356T	SPRED3_ENST00000587013.1_5'Flank|GGN_ENST00000591809.1_Intron|AC005789.9_ENST00000585411.1_RNA	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	356	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.A356T(2)		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)			CCGTCGGGAGCGCTAACCCAG	0.716																																					p.A356T												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G1066A	19						.						36.0	40.0	39.0					19																	38876836		2202	4299	6501	43568676	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.1066G>A	19.37:g.38876836C>T	ENSP00000334940:p.Ala356Thr		43568676	NM_152657	Q7RTU6|Q86UU4|Q8NAA1	Missense_Mutation	SNP	ENST00000334928.6	37	CCDS12516.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.170491	0.38315	.	.	ENSG00000179168	ENST00000334928	.	.	.	3.33	-0.332	0.12675	.	0.431797	0.17042	N	0.189292	T	0.15349	0.0370	N	0.14661	0.345	0.21064	N	0.999792	B;B	0.16396	0.017;0.017	B;B	0.06405	0.002;0.002	T	0.10989	-1.0606	9	0.34782	T	0.22	0.1421	1.5997	0.02672	0.1319:0.223:0.4418:0.2033	.	273;356	Q86UU5-2;Q86UU5	.;GGN_HUMAN	T	356	.	ENSP00000334940:A356T	A	-	1	0	GGN	43568676	1.000000	0.71417	0.566000	0.28421	0.635000	0.38103	1.030000	0.30153	-0.180000	0.10637	-0.502000	0.04539	GCT		0.716	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459205.1	NM_152657	
SEMA6B	10501	broad.mit.edu	37	19	4555541	4555541	+	Silent	SNP	G	G	A	rs146414829	byFrequency	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:4555541G>A	ENST00000586582.1	-	7	817	c.507C>T	c.(505-507)agC>agT	p.S169S	SEMA6B_ENST00000301293.3_Silent_p.S169S|SEMA6B_ENST00000586965.1_Silent_p.S169S	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	169	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.S169S(1)		breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCCATACCGCTGATGTTGT	0.632																																					p.S169S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C507T	19						.	G		2,4404	4.2+/-10.8	0,2,2201	104.0	93.0	97.0		507	-6.5	0.7	19	dbSNP_134	97	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SEMA6B	NM_032108.3		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		169/889	4555541	3,13003	2203	4300	6503	4506541	SO:0001819	synonymous_variant	10501	exon7			AB022433	CCDS12131.1	19p13.3	2008-07-22				ENSG00000167680		"""Semaphorins"""	10739	protein-coding gene	gene with protein product	"""Sema VIb"", ""semaphorin Z"", ""semaphorin VIB"""	608873		SEMAN		9361278	Standard	NM_032108		Approved	semaZ, SEMA-VIB, SEM-SEMA-Y	uc010dud.2	Q9H3T3		ENST00000586582.1:c.507C>T	19.37:g.4555541G>A			4506541	NM_032108	A5PKU4|F6IB19|Q9NRK9	Silent	SNP	ENST00000586582.1	37	CCDS12131.1																																																																																				0.632	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458656.2	NM_032108	
FBL	2091	broad.mit.edu	37	19	40329741	40329741	+	Silent	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:40329741A>G	ENST00000221801.3	-	5	596	c.483T>C	c.(481-483)gcT>gcC	p.A161A	FBL_ENST00000593503.1_5'Flank	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	161					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.A161A(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)		AGAGAACCTTAGCCCCCGGTT	0.577																																					p.A161A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T483C	19						.						143.0	128.0	133.0					19																	40329741		2203	4300	6503	45021581	SO:0001819	synonymous_variant	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.483T>C	19.37:g.40329741A>G			45021581	NM_001436	B5BUE8|O75259|Q6IAT5|Q9UPI6	Silent	SNP	ENST00000221801.3	37	CCDS12545.1																																																																																				0.577	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462509.4	NM_001436	
ZNF780B	163131	broad.mit.edu	37	19	40541025	40541025	+	Missense_Mutation	SNP	C	C	T	rs369018278		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:40541025C>T	ENST00000434248.1	-	5	1806	c.1741G>A	c.(1741-1743)Gga>Aga	p.G581R	ZNF780B_ENST00000221355.6_Missense_Mutation_p.G433R	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	581					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.G581R(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GGTTTCTTTCCGGTATGAATA	0.388																																					p.G581R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1741A	19						.	C	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	107.0	114.0	111.0		1741	1.5	0.0	19		111	0,8600		0,0,4300	no	missense	ZNF780B	NM_001005851.2	125	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	581/834	40541025	1,13005	2203	4300	6503	45232865	SO:0001583	missense	163131	exon5			AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"""Zinc fingers, C2H2-type"", ""-"""	33109	protein-coding gene	gene with protein product			"""zinc finger protein 779"""	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.1741G>A	19.37:g.40541025C>T	ENSP00000391641:p.Gly581Arg		45232865	NM_001005851	B9EH00	Missense_Mutation	SNP	ENST00000434248.1	37	CCDS46077.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.970459	0.74246	2.27E-4	0.0	ENSG00000128000	ENST00000434248;ENST00000221355	T;T	0.26223	1.75;1.75	2.56	1.45	0.22620	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43277	0.1240	M	0.69248	2.105	0.31143	N	0.706402	D	0.89917	1.0	D	0.97110	1.0	T	0.42582	-0.9443	9	0.56958	D	0.05	.	6.4082	0.21676	0.0:0.8247:0.0:0.1753	.	581	Q9Y6R6	Z780B_HUMAN	R	581;433	ENSP00000391641:G581R;ENSP00000221355:G433R	ENSP00000221355:G433R	G	-	1	0	ZNF780B	45232865	0.000000	0.05858	0.017000	0.16124	0.602000	0.36980	0.958000	0.29227	0.214000	0.20742	0.462000	0.41574	GGA		0.388	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338466.1	NM_001005851	
CYP2A6	1548	broad.mit.edu	37	19	41354554	41354554	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:41354554G>A	ENST00000301141.5	-	3	478	c.458C>T	c.(457-459)gCg>gTg	p.A153V	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	153					coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|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)	p.A153V(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	GAGGAAGCCCGCCTCCTCCTG	0.706																																					p.A153V												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C458T	19						.						39.0	42.0	41.0					19																	41354554		2203	4299	6502	46046394	SO:0001583	missense	1548	exon3			AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"""Cytochrome P450s"""	2610	protein-coding gene	gene with protein product		122720	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"""	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.458C>T	19.37:g.41354554G>A	ENSP00000301141:p.Ala153Val		46046394	NM_000762	A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Missense_Mutation	SNP	ENST00000301141.5	37	CCDS12568.1	.	.	.	.	.	.	.	.	.	.	-	17.91	3.504767	0.64410	.	.	ENSG00000255974	ENST00000301141	T	0.71461	-0.57	2.95	0.175	0.15045	.	0.117066	0.56097	U	0.000023	T	0.69396	0.3106	L	0.43757	1.38	0.09310	N	0.999993	D	0.69078	0.997	P	0.57846	0.828	T	0.60414	-0.7268	10	0.66056	D	0.02	.	7.3897	0.26903	0.0:0.2009:0.6316:0.1675	.	153	P11509	CP2A6_HUMAN	V	153	ENSP00000301141:A153V	ENSP00000301141:A153V	A	-	2	0	CYP2A6	46046394	0.000000	0.05858	0.365000	0.25901	0.095000	0.18619	0.310000	0.19356	0.439000	0.26476	0.386000	0.25728	GCG		0.706	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463259.1	NM_000762	
AXL	558	broad.mit.edu	37	19	41726545	41726545	+	Silent	SNP	G	G	A	rs201764420		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:41726545G>A	ENST00000301178.4	+	2	280	c.90G>A	c.(88-90)acG>acA	p.T30T	AXL_ENST00000594880.1_3'UTR|AXL_ENST00000359092.3_Silent_p.T30T|CTD-2195B23.3_ENST00000598541.1_RNA	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	30	Ig-like C2-type 1.|Interaction with GAS6.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.T30T(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CTCCAGGCACGCAGGCTGAAG	0.642													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18505	0.0		0.0	False		,,,				2504	0.0				p.T30T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G90A	19						.						24.0	22.0	23.0					19																	41726545		2189	4281	6470	46418385	SO:0001819	synonymous_variant	558	exon2			M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.90G>A	19.37:g.41726545G>A			46418385	NM_021913	Q8N5L2|Q9UD27	Silent	SNP	ENST00000301178.4	37	CCDS12575.1																																																																																				0.642	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2		
DMRTC2	63946	broad.mit.edu	37	19	42353225	42353225	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:42353225T>C	ENST00000269945.3	+	6	707	c.656T>C	c.(655-657)cTg>cCg	p.L219P	DMRTC2_ENST00000596827.1_Missense_Mutation_p.L219P	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	219	Pro-rich.				male meiosis I (GO:0007141)|positive regulation of histone H3-K9 dimethylation (GO:1900111)|positive regulation of histone H3-K9 trimethylation (GO:1900114)|sex differentiation (GO:0007548)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|XY body (GO:0001741)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L219P(1)		endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						TCCCTCCAGCTGCCCACTCAT	0.572																																					p.L219P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T656C	19						.						121.0	126.0	124.0					19																	42353225		2203	4300	6503	47045065	SO:0001583	missense	63946	exon6			AJ291669	CCDS33034.1	19q13.2	2008-07-16				ENSG00000142025			13911	protein-coding gene	gene with protein product		614806				11863363	Standard	NM_001040283		Approved		uc002ors.3	Q8IXT2		ENST00000269945.3:c.656T>C	19.37:g.42353225T>C	ENSP00000269945:p.Leu219Pro		47045065	NM_001040283	Q8N6Q2|Q96M39|Q96SD4	Missense_Mutation	SNP	ENST00000269945.3	37	CCDS33034.1	.	.	.	.	.	.	.	.	.	.	T	15.13	2.740923	0.49151	.	.	ENSG00000142025	ENST00000269945	T	0.52983	0.64	5.1	5.1	0.69264	.	0.000000	0.28062	N	0.016750	T	0.54431	0.1858	L	0.32530	0.975	0.54753	D	0.999984	D;D	0.76494	0.998;0.999	P;D	0.85130	0.889;0.997	T	0.48843	-0.8999	10	0.25751	T	0.34	-0.9181	11.5555	0.50745	0.0:0.0:0.0:1.0	.	219;219	B4DX56;Q8IXT2	.;DMRTD_HUMAN	P	219	ENSP00000269945:L219P	ENSP00000269945:L219P	L	+	2	0	DMRTC2	47045065	1.000000	0.71417	1.000000	0.80357	0.397000	0.30659	2.155000	0.42301	2.059000	0.61396	0.379000	0.24179	CTG		0.572	DMRTC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463045.1	NM_001040283	
MEGF8	1954	broad.mit.edu	37	19	42841030	42841030	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:42841030G>A	ENST00000251268.6	+	7	1316	c.1316G>A	c.(1315-1317)cGg>cAg	p.R439Q	MEGF8_ENST00000334370.4_Missense_Mutation_p.R439Q	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	439					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)	p.R439Q(1)		breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CTGAAGGGGCGGGATGGGCTT	0.602																																					p.R439Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1316A	19						.						95.0	80.0	85.0					19																	42841030		2203	4300	6503	47532870	SO:0001583	missense	1954	exon7			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.1316G>A	19.37:g.42841030G>A	ENSP00000251268:p.Arg439Gln		47532870	NM_001410	A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37		.	.	.	.	.	.	.	.	.	.	G	23.9	4.466637	0.84425	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.21361	2.03;2.01	4.91	4.91	0.64330	.	.	.	.	.	T	0.29158	0.0725	N	0.22421	0.69	0.80722	D	1	D	0.67145	0.996	P	0.61800	0.894	T	0.02015	-1.1229	9	0.41790	T	0.15	-12.4841	15.6199	0.76799	0.0:0.0:1.0:0.0	.	439	Q7Z7M0-2	.	Q	439	ENSP00000334219:R439Q;ENSP00000251268:R439Q	ENSP00000251268:R439Q	R	+	2	0	MEGF8	47532870	1.000000	0.71417	1.000000	0.80357	0.667000	0.39255	2.872000	0.48467	2.554000	0.86153	0.462000	0.41574	CGG		0.602	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410	
SMG9	56006	broad.mit.edu	37	19	44235799	44235799	+	Silent	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:44235799A>G	ENST00000270066.6	-	14	1854	c.1512T>C	c.(1510-1512)gaT>gaC	p.D504D		NM_019108.2	NP_061981.2	Q9H0W8	SMG9_HUMAN	SMG9 nonsense mediated mRNA decay factor	504					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.D504D(1)		kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						TTCTCACCCCATCCCAGATCC	0.657																																					p.D504D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1512C	19						.						60.0	54.0	56.0					19																	44235799		2203	4300	6503	48927639	SO:0001819	synonymous_variant	56006	exon14			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.1512T>C	19.37:g.44235799A>G			48927639	NM_019108	O60429|Q9H9A9	Silent	SNP	ENST00000270066.6	37	CCDS33043.2																																																																																				0.657	SMG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317668.1	NM_019108	
ZNF285	26974	broad.mit.edu	37	19	44891874	44891874	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:44891874C>T	ENST00000330997.4	-	4	597	c.533G>A	c.(532-534)cGt>cAt	p.R178H	ZNF285_ENST00000544719.2_Missense_Mutation_p.R178H|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.R185H	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	178					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.R178H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						ATGCTGAGCACGTCTGTACAA	0.473																																					p.R178H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G533A	19						.						113.0	112.0	112.0					19																	44891874		2203	4300	6503	49583714	SO:0001583	missense	26974	exon4			AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.533G>A	19.37:g.44891874C>T	ENSP00000333595:p.Arg178His		49583714	NM_152354	Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	C	1.224	-0.625944	0.03610	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.06218	3.33	3.27	-0.2	0.13216	.	.	.	.	.	T	0.02156	0.0067	N	0.01352	-0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44574	-0.9319	9	0.44086	T	0.13	.	6.2354	0.20760	0.0:0.6607:0.1508:0.1885	.	202;178	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	H	201;178	ENSP00000333595:R178H	ENSP00000333595:R178H	R	-	2	0	ZNF285	49583714	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.081000	0.11321	-0.077000	0.12752	-2.437000	0.00212	CGT		0.473	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354	
EML2	24139	broad.mit.edu	37	19	46116892	46116892	+	Silent	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:46116892G>A	ENST00000245925.3	-	18	1781	c.1731C>T	c.(1729-1731)aaC>aaT	p.N577N	EML2_ENST00000587152.1_Silent_p.N778N|EML2_ENST00000536630.1_Silent_p.N724N|EML2_ENST00000589876.1_Silent_p.N577N	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	577	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.N577N(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GGGCCACAGCGTTGATATCAG	0.572																																					p.N724N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2172T	19						.						137.0	112.0	121.0					19																	46116892		2203	4300	6503	50808732	SO:0001819	synonymous_variant	24139	exon21			AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"""WD repeat domain containing"""	18035	protein-coding gene	gene with protein product	"""echinoderm MT-associated protein (EMAP)-like protein 70"", ""microtubule-associated protein like echinoderm EMAP"""					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.1731C>T	19.37:g.46116892G>A			50808732	NM_001193269	B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Silent	SNP	ENST00000245925.3	37	CCDS12670.1																																																																																				0.572	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155	
FOXA3	3171	broad.mit.edu	37	19	46367741	46367741	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:46367741C>T	ENST00000302177.2	+	1	224	c.27C>T	c.(25-27)gcC>gcT	p.A9A	SYMPK_ENST00000245934.7_5'Flank	NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	9					cell differentiation (GO:0030154)|cellular glucose homeostasis (GO:0001678)|cellular response to starvation (GO:0009267)|chromatin modification (GO:0016568)|endocrine pancreas development (GO:0031018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.A9A(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		AGATGGAGGCCCATGACCTGG	0.716																																					p.A9A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C27T	19						.						30.0	28.0	29.0					19																	46367741		2183	4277	6460	51059581	SO:0001819	synonymous_variant	3171	exon1			L12141	CCDS12677.1	19q13.32	2014-09-11		2002-09-20	ENSG00000170608	ENSG00000170608		"""Forkhead boxes"""	5023	protein-coding gene	gene with protein product		602295	"""hepatocyte nuclear factor 3, gamma"""	HNF3G		9119385	Standard	NM_004497		Approved		uc002pdr.3	P55318	OTTHUMG00000182484	ENST00000302177.2:c.27C>T	19.37:g.46367741C>T			51059581	NM_004497	A9LYI5|Q53F16|Q9UMW9	Silent	SNP	ENST00000302177.2	37	CCDS12677.1																																																																																				0.716	FOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461682.1		
CABP5	56344	broad.mit.edu	37	19	48543977	48543977	+	Silent	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:48543977A>G	ENST00000293255.2	-	3	253	c.123T>C	c.(121-123)gaT>gaC	p.D41D		NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5	41	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				signal transduction (GO:0007165)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)	p.D41D(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)		CTCGGTCCTTATCGAACTCAA	0.498																																					p.D41D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T123C	19						.						102.0	95.0	97.0					19																	48543977		2203	4300	6503	53235789	SO:0001819	synonymous_variant	56344	exon3			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.123T>C	19.37:g.48543977A>G			53235789	NM_019855	A0AUY4	Silent	SNP	ENST00000293255.2	37	CCDS12709.1																																																																																				0.498	CABP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465212.1	NM_019855	
DBP	1628	broad.mit.edu	37	19	49134243	49134243	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:49134243G>A	ENST00000222122.5	-	4	1272	c.829C>T	c.(829-831)Cgg>Tgg	p.R277W	DBP_ENST00000593500.1_Missense_Mutation_p.R75W|DBP_ENST00000599385.1_Missense_Mutation_p.R75W	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box) binding protein	277	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				liver development (GO:0001889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|rhythmic process (GO:0048511)	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)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)	p.R277W(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		TCCTTGAGCCGCCGGGCGTCA	0.637																																					p.R277W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C829T	19						.						29.0	30.0	30.0					19																	49134243		2203	4300	6503	53826055	SO:0001583	missense	1628	exon4			U06936	CCDS12728.1	19q13.33	2013-09-20			ENSG00000105516	ENSG00000105516			2697	protein-coding gene	gene with protein product		124097				1535333, 7835883	Standard	XR_243907		Approved	DABP	uc002pjx.4	Q10586	OTTHUMG00000183319	ENST00000222122.5:c.829C>T	19.37:g.49134243G>A	ENSP00000222122:p.Arg277Trp		53826055	NM_001352	A2I2P4	Missense_Mutation	SNP	ENST00000222122.5	37	CCDS12728.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204448	0.79127	.	.	ENSG00000105516	ENST00000222122	T	0.55234	0.53	4.81	1.22	0.21188	Basic-leucine zipper (bZIP) transcription factor (2);Basic leucine zipper (1);	0.000000	0.64402	U	0.000001	T	0.78566	0.4303	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82006	-0.0671	10	0.87932	D	0	-22.33	11.8932	0.52641	0.0:0.0:0.5179:0.4821	.	277	Q10586	DBP_HUMAN	W	277	ENSP00000222122:R277W	ENSP00000222122:R277W	R	-	1	2	DBP	53826055	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	2.042000	0.41222	0.101000	0.17610	0.563000	0.77884	CGG		0.637	DBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466167.1	NM_001352	
DHDH	27294	broad.mit.edu	37	19	49439356	49439356	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:49439356C>T	ENST00000221403.2	+	3	310	c.270C>T	c.(268-270)ggC>ggT	p.G90G	DHDH_ENST00000522614.1_Silent_p.G90G|DHDH_ENST00000523250.1_Intron	NM_014475.3	NP_055290.1	Q9UQ10	DHDH_HUMAN	dihydrodiol dehydrogenase (dimeric)	90					carbohydrate metabolic process (GO:0005975)|D-xylose catabolic process (GO:0042843)		D-xylose 1-dehydrogenase (NADP+) activity (GO:0047837)|electron carrier activity (GO:0009055)|NAD(P)+ transhydrogenase activity (GO:0008746)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)	p.G90G(1)		central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		TGGCGGCGGGCAAGGCCGTTC	0.657																																					p.G90G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C270T	19						.						22.0	22.0	22.0					19																	49439356		2201	4299	6500	54131168	SO:0001819	synonymous_variant	27294	exon3			AB021933	CCDS12741.1	19q13.3	2008-02-05			ENSG00000104808	ENSG00000104808	1.3.1.20		17887	protein-coding gene	gene with protein product		606377				10477285	Standard	NM_014475		Approved	HUM2DD	uc002ple.1	Q9UQ10	OTTHUMG00000165029	ENST00000221403.2:c.270C>T	19.37:g.49439356C>T			54131168	NM_014475		Silent	SNP	ENST00000221403.2	37	CCDS12741.1																																																																																				0.657	DHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381477.1	NM_014475	
HRC	3270	broad.mit.edu	37	19	49656751	49656751	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:49656751G>A	ENST00000252825.4	-	1	1930	c.1744C>T	c.(1744-1746)Ccc>Tcc	p.P582S	HRC_ENST00000595625.1_Missense_Mutation_p.P582S	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	582					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)	p.P582S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GTGAAGCGGGGctcatcttcc	0.642																																					p.P582S	Melanoma(37;75 1097 24567 25669 30645)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1744T	19						.						57.0	42.0	47.0					19																	49656751		2203	4300	6503	54348563	SO:0001583	missense	3270	exon1				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1744C>T	19.37:g.49656751G>A	ENSP00000252825:p.Pro582Ser		54348563	NM_002152	Q504Y6	Missense_Mutation	SNP	ENST00000252825.4	37	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.588834	0.00864	.	.	ENSG00000130528	ENST00000252825;ENST00000391863	T	0.38240	1.15	2.84	-0.666	0.11399	.	.	.	.	.	T	0.11707	0.0285	N	0.08118	0	0.09310	N	1	P	0.37466	0.596	B	0.32289	0.143	T	0.15694	-1.0428	9	0.10377	T	0.69	-0.4019	2.39	0.04376	0.281:0.0:0.4798:0.2392	.	582	P23327	SRCH_HUMAN	S	582;272	ENSP00000252825:P582S	ENSP00000252825:P582S	P	-	1	0	HRC	54348563	0.002000	0.14202	0.003000	0.11579	0.211000	0.24417	0.455000	0.21843	-0.033000	0.13736	-0.355000	0.07637	CCC		0.642	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152	
NOSIP	51070	broad.mit.edu	37	19	50063226	50063226	+	Silent	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:50063226A>G	ENST00000596358.1	-	3	199	c.141T>C	c.(139-141)tgT>tgC	p.C47C	NOSIP_ENST00000391853.3_Silent_p.C47C|NOSIP_ENST00000339093.3_Silent_p.C47C	NM_001270960.1	NP_001257889.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	47					negative regulation of catalytic activity (GO:0043086)|negative regulation of nitric-oxide synthase activity (GO:0051001)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.C47C(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		GCAGGGAGAGACAACAGCAGT	0.617																																					p.C47C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T141C	19						.						123.0	88.0	100.0					19																	50063226		2203	4300	6503	54755038	SO:0001819	synonymous_variant	51070	exon4			AF132959	CCDS12772.1	19q13.3	2008-02-05				ENSG00000142546			17946	protein-coding gene	gene with protein product						11149895, 10810093	Standard	NM_015953		Approved	CGI-25	uc002pol.4	Q9Y314		ENST00000596358.1:c.141T>C	19.37:g.50063226A>G			54755038	NM_015953	Q96FD2	Silent	SNP	ENST00000596358.1	37	CCDS12772.1																																																																																				0.617	NOSIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465423.1		
MYH14	79784	broad.mit.edu	37	19	50755919	50755919	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:50755919G>A	ENST00000596571.1	+	14	1830	c.1830G>A	c.(1828-1830)tgG>tgA	p.W610*	MYH14_ENST00000601313.1_Nonsense_Mutation_p.W618*|MYH14_ENST00000376970.2_Nonsense_Mutation_p.W610*|MYH14_ENST00000440075.2_Nonsense_Mutation_p.W618*|MYH14_ENST00000262269.8_Nonsense_Mutation_p.W618*|MYH14_ENST00000425460.1_Nonsense_Mutation_p.W618*|MYH14_ENST00000598205.1_Nonsense_Mutation_p.W618*			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	610	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.W618*(1)|p.W610*(1)		central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CCAACGAGTGGCTGATGAAAA	0.542																																					p.W618X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1854A	19						.						51.0	53.0	52.0					19																	50755919		2189	4295	6484	55447731	SO:0001587	stop_gained	79784	exon16			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.1830G>A	19.37:g.50755919G>A	ENSP00000472819:p.Trp610*		55447731	NM_001077186	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Nonsense_Mutation	SNP	ENST00000596571.1	37	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	G	40	7.966863	0.98585	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	.	.	.	4.03	4.03	0.46877	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0687	0.64847	0.0:0.0:1.0:0.0	.	.	.	.	X	610;618;610;618;610;618	.	ENSP00000262269:W618X	W	+	3	0	MYH14	55447731	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.566000	0.98157	2.249000	0.74217	0.462000	0.41574	TGG		0.542	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729	
SAFB	6294	broad.mit.edu	37	19	5641840	5641840	+	Silent	SNP	C	C	T	rs137931208		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:5641840C>T	ENST00000292123.5	+	4	536	c.429C>T	c.(427-429)agC>agT	p.S143S	SAFB_ENST00000592224.1_Silent_p.S143S|SAFB_ENST00000588852.1_Silent_p.S143S|SAFB_ENST00000538656.1_Intron|SAFB_ENST00000454510.1_Intron|SAFB_ENST00000586934.1_3'UTR|SAFB_ENST00000433404.1_5'UTR	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	143					chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S143S(1)		breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		ATAATGGAAGCGTTGCAGATT	0.483																																					p.S143S	Colon(88;338 1345 6184 8214 20897)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C429T	19						.	C	,,,	1,4405	2.1+/-5.4	0,1,2202	158.0	156.0	157.0		429,429,,429	-5.0	0.1	19	dbSNP_134	157	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,intron,coding-synonymous	SAFB	NM_001201338.1,NM_001201339.1,NM_001201340.1,NM_002967.3	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	143/918,143/917,,143/916	5641840	1,13005	2203	4300	6503	5592840	SO:0001819	synonymous_variant	6294	exon4			L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"""RNA binding motif (RRM) containing"""	10520	protein-coding gene	gene with protein product	"""Hsp27 ERE-TATA binding protein"""	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.429C>T	19.37:g.5641840C>T			5592840	NM_002967	A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Silent	SNP	ENST00000292123.5	37	CCDS12142.1																																																																																				0.483	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451641.2		
SHANK1	50944	broad.mit.edu	37	19	51175329	51175329	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:51175329G>A	ENST00000293441.1	-	21	2638	c.2620C>T	c.(2620-2622)Cgt>Tgt	p.R874C	SHANK1_ENST00000359082.3_Missense_Mutation_p.R865C|SHANK1_ENST00000391813.1_Missense_Mutation_p.R261C|SHANK1_ENST00000391814.1_Missense_Mutation_p.R882C	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	874					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)	p.R874C(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AAAGAAGGACGCTCGTAACTT	0.577																																					p.R874C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2620T	19						.						92.0	78.0	83.0					19																	51175329		2203	4300	6503	55867141	SO:0001583	missense	50944	exon21			AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.2620C>T	19.37:g.51175329G>A	ENSP00000293441:p.Arg874Cys		55867141	NM_016148	A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.770050	0.49680	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.40756	1.14;1.57;1.13;1.02	3.87	3.87	0.44632	.	1.801580	0.03745	U	0.255586	T	0.63010	0.2475	L	0.58810	1.83	0.51482	D	0.999927	D;D	0.89917	1.0;0.999	P;D	0.70016	0.895;0.967	T	0.51513	-0.8696	10	0.87932	D	0	-7.4446	10.5052	0.44830	0.0:0.0:0.8056:0.1944	.	874;261	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	C	874;261;865;882	ENSP00000293441:R874C;ENSP00000375689:R261C;ENSP00000351984:R865C;ENSP00000375690:R882C	ENSP00000293441:R874C	R	-	1	0	SHANK1	55867141	1.000000	0.71417	0.945000	0.38365	0.992000	0.81027	3.678000	0.54627	2.161000	0.67846	0.491000	0.48974	CGT		0.577	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148	
ZNF611	81856	broad.mit.edu	37	19	53209021	53209021	+	Silent	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:53209021A>G	ENST00000319783.1	-	7	1603	c.1287T>C	c.(1285-1287)aaT>aaC	p.N429N	ZNF611_ENST00000602162.1_Silent_p.N360N|ZNF611_ENST00000453741.2_Silent_p.N360N|ZNF611_ENST00000595798.1_Silent_p.N360N|ZNF611_ENST00000602046.1_5'Flank|ZNF611_ENST00000540744.1_Silent_p.N429N|ZNF611_ENST00000543227.1_Silent_p.N429N	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N429N(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TGCCACACTCATTACATTTAT	0.403																																					p.N360N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1080C	19						.						130.0	125.0	127.0					19																	53209021		2203	4300	6503	57900833	SO:0001819	synonymous_variant	81856	exon5			AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"""Zinc fingers, C2H2-type"", ""-"""	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.1287T>C	19.37:g.53209021A>G			57900833	NM_001161501	B3KRD5|Q69YG9	Silent	SNP	ENST00000319783.1	37	CCDS12855.1																																																																																				0.403	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972	
PRKCG	5582	broad.mit.edu	37	19	54395765	54395765	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:54395765A>G	ENST00000263431.3	+	7	971	c.689A>G	c.(688-690)aAc>aGc	p.N230S	PRKCG_ENST00000540413.1_Missense_Mutation_p.N230S|PRKCG_ENST00000542049.1_Missense_Mutation_p.N117S|PRKCG_ENST00000536044.1_Missense_Mutation_p.N230S	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	230	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)	p.N230S(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	TCCTGCAGCAACCTGAAGCCA	0.662																																					p.N230S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A689G	19						.						39.0	30.0	33.0					19																	54395765		2203	4300	6503	59087577	SO:0001583	missense	5582	exon7			M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.689A>G	19.37:g.54395765A>G	ENSP00000263431:p.Asn230Ser		59087577	NM_002739	B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	A	9.289	1.050099	0.19827	.	.	ENSG00000126583	ENST00000536044;ENST00000540413;ENST00000263431;ENST00000542049	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	4.53	3.39	0.38822	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	T	0.41026	0.1141	N	0.04508	-0.205	0.27529	N	0.951153	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.0;0.0;0.002;0.0;0.0	T	0.21415	-1.0246	9	0.25106	T	0.35	.	8.4213	0.32703	0.6296:0.3703:0.0:0.0	.	117;230;230;230;230	B7Z8Q0;F5H5C4;B7Z870;B7Z3W6;P05129	.;.;.;.;KPCG_HUMAN	S	230;230;230;117	ENSP00000440541:N230S;ENSP00000443493:N230S;ENSP00000263431:N230S;ENSP00000438090:N117S	ENSP00000263431:N230S	N	+	2	0	PRKCG	59087577	0.546000	0.26457	1.000000	0.80357	0.845000	0.48019	0.974000	0.29436	1.819000	0.53055	0.454000	0.30748	AAC		0.662	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739	
LAIR1	3903	broad.mit.edu	37	19	54866951	54866951	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:54866951C>T	ENST00000391742.2	-	10	942	c.790G>A	c.(790-792)Gcc>Acc	p.A264T	LAIR1_ENST00000434277.2_Missense_Mutation_p.A263T|CTD-2587H19.1_ENST00000596234.1_lincRNA|LAIR1_ENST00000474878.1_Missense_Mutation_p.A246T|LAIR1_ENST00000391743.3_Missense_Mutation_p.A246T|LAIR1_ENST00000463489.1_5'Flank|LAIR1_ENST00000313038.6_Missense_Mutation_p.A257T|LAIR1_ENST00000348231.4_Missense_Mutation_p.A247T			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	264					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A264T(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		ACAGCCCGGGCTGTCCTCTGT	0.637																																					p.A247T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G739A	19						.						101.0	92.0	95.0					19																	54866951		2203	4300	6503	59558763	SO:0001583	missense	3903	exon9			AF013249	CCDS12891.1, CCDS12892.1, CCDS74448.1, CCDS74449.1, CCDS74450.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167613	ENSG00000167613		"""Leukocyte-associated Ig like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6477	protein-coding gene	gene with protein product		602992	"""leukocyte-associated Ig-like receptor 1"""			9285412	Standard	XM_005258924		Approved	CD305	uc002qfk.1	Q6GTX8	OTTHUMG00000065545	ENST00000391742.2:c.790G>A	19.37:g.54866951C>T	ENSP00000375622:p.Ala264Thr		59558763	NM_021706		Missense_Mutation	SNP	ENST00000391742.2	37	CCDS12891.1	.	.	.	.	.	.	.	.	.	.	.	16.72	3.202245	0.58234	.	.	ENSG00000167613	ENST00000391743;ENST00000391742;ENST00000434277;ENST00000348231;ENST00000313038;ENST00000474878	T;T;T;T;T;T	0.00491	7.02;7.11;7.12;7.13;7.07;7.11	3.77	1.56	0.23342	.	1.116280	0.06948	N	0.813990	T	0.00552	0.0018	N	0.25094	0.71	0.09310	N	1	D;D;D;D;D	0.76494	0.999;0.999;0.997;0.987;0.999	P;D;P;P;P	0.64144	0.837;0.922;0.852;0.889;0.837	T	0.45396	-0.9264	10	0.02654	T	1	.	4.3379	0.11095	0.2239:0.6577:0.0:0.1184	.	246;246;263;247;264	A8MZ84;Q6GTX8-3;D3YTC8;Q6GTX8-2;Q6GTX8	.;.;.;.;LAIR1_HUMAN	T	246;264;263;247;257;246	ENSP00000375623:A246T;ENSP00000375622:A264T;ENSP00000391003:A263T;ENSP00000301193:A247T;ENSP00000319204:A257T;ENSP00000418998:A246T	ENSP00000319204:A257T	A	-	1	0	LAIR1	59558763	0.000000	0.05858	0.000000	0.03702	0.167000	0.22549	-0.050000	0.11904	0.519000	0.28406	0.561000	0.74099	GCC		0.637	LAIR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140506.1		
LILRB1	10859	broad.mit.edu	37	19	55145459	55145459	+	Silent	SNP	G	G	A	rs371936769		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:55145459G>A	ENST00000396331.1	+	10	1704	c.1347G>A	c.(1345-1347)tcG>tcA	p.S449S	LILRB1_ENST00000434867.2_Silent_p.S449S|LILRB1_ENST00000396317.1_Silent_p.S433S|LILRB1_ENST00000427581.2_Silent_p.S486S|LILRB1_ENST00000396321.2_Silent_p.S449S|LILRB1_ENST00000396315.1_Silent_p.S450S|LILRB1_ENST00000324602.7_Silent_p.S450S|LILRB1_ENST00000418536.2_Silent_p.S433S|LILRB1_ENST00000448689.1_Silent_p.S449S|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396332.4_Silent_p.S449S|LILRB1_ENST00000396327.3_Silent_p.S450S	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	449					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)	p.S449S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCACCGGGTCGGATCCCCAGA	0.692										HNSCC(37;0.09)																											p.S449S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1347A	19						.						20.0	24.0	23.0					19																	55145459		2195	4295	6490	59837271	SO:0001819	synonymous_variant	10859	exon9			AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1347G>A	19.37:g.55145459G>A			59837271	NM_001081639	A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Silent	SNP	ENST00000396331.1	37	CCDS42617.1																																																																																				0.692	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4		
NLRP7	199713	broad.mit.edu	37	19	55452368	55452368	+	Missense_Mutation	SNP	C	C	T	rs139884333		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:55452368C>T	ENST00000590030.1	-	2	323	c.283G>A	c.(283-285)Gga>Aga	p.G95R	NLRP7_ENST00000446217.1_Missense_Mutation_p.G123R|NLRP7_ENST00000592784.1_Missense_Mutation_p.G95R|NLRP7_ENST00000340844.2_Missense_Mutation_p.G95R|NLRP7_ENST00000588756.1_Missense_Mutation_p.G95R|NLRP7_ENST00000328092.5_Missense_Mutation_p.G95R|NLRP7_ENST00000448121.2_Missense_Mutation_p.G95R			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	95							ATP binding (GO:0005524)	p.G95R(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)		TGCACCTGTCCGTCCTCTGTA	0.433																																					p.G95R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G283A	19						.	C	ARG/GLY,ARG/GLY,ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	198.0	165.0	176.0		283,283,283	-2.4	0.0	19	dbSNP_134	176	0,8600		0,0,4300	no	missense,missense,missense	NLRP7	NM_001127255.1,NM_139176.3,NM_206828.3	125,125,125	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign	95/1038,95/1010,95/981	55452368	1,13005	2203	4300	6503	60144180	SO:0001583	missense	199713	exon3			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.283G>A	19.37:g.55452368C>T	ENSP00000465520:p.Gly95Arg		60144180	NM_139176	E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	4.122	0.020855	0.08006	2.27E-4	0.0	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217	T;T;T;T	0.74002	-0.73;-0.73;-0.8;-0.77	1.8	-2.39	0.06602	.	.	.	.	.	T	0.49167	0.1541	N	0.08118	0	0.09310	N	1	B;B;B;B	0.10296	0.002;0.002;0.002;0.003	B;B;B;B	0.06405	0.0;0.001;0.001;0.002	T	0.30650	-0.9971	9	0.52906	T	0.07	.	5.4925	0.16785	0.0:0.3744:0.0:0.6256	.	123;95;95;95	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	R	95;95;95;123	ENSP00000329568:G95R;ENSP00000409137:G95R;ENSP00000339491:G95R;ENSP00000414273:G123R	ENSP00000329568:G95R	G	-	1	0	NLRP7	60144180	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.021000	0.03615	-0.560000	0.06102	-0.448000	0.05591	GGA		0.433	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176	
GP6	51206	broad.mit.edu	37	19	55526128	55526128	+	3'UTR	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:55526128G>A	ENST00000417454.1	-	0	1208				CTC-550B14.7_ENST00000593060.1_RNA|GP6_ENST00000333884.2_3'UTR|GP6_ENST00000310373.3_Silent_p.F395F|CTC-550B14.7_ENST00000586845.1_RNA	NM_016363.4	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)						blood coagulation (GO:0007596)|enzyme linked receptor protein signaling pathway (GO:0007167)|leukocyte migration (GO:0050900)|platelet activation (GO:0030168)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	collagen binding (GO:0005518)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.F395F(1)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		gacaCTGGCCGAACGGCTCCC	0.597																																					p.F395F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1185T	19						.						51.0	60.0	57.0					19																	55526128		2161	4266	6427	60217940	SO:0001624	3_prime_UTR_variant	51206	exon8			AB035073	CCDS42626.1, CCDS46184.1, CCDS58678.1	19q13.4	2013-01-29			ENSG00000088053	ENSG00000088053		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14388	protein-coding gene	gene with protein product		605546				11027634	Standard	NM_001083899		Approved	GPVI	uc002qil.3	Q9HCN6	OTTHUMG00000159709	ENST00000417454.1:c.*161C>T	19.37:g.55526128G>A			60217940	NM_001083899	Q9HCN7|Q9UIF2	Silent	SNP	ENST00000417454.1	37	CCDS46184.1																																																																																				0.597	GP6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357006.1		
SYT5	6861	broad.mit.edu	37	19	55685985	55685985	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:55685985C>T	ENST00000354308.3	-	8	1229	c.860G>A	c.(859-861)gGc>gAc	p.G287D	SYT5_ENST00000590851.1_Missense_Mutation_p.G283D|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000592935.1_5'Flank|SYT5_ENST00000537500.1_Missense_Mutation_p.G287D	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	287	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.G287D(1)		kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CACCTTTTTGCCGCCCTGCAG	0.517																																					p.G287D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G860A	19						.						158.0	145.0	149.0					19																	55685985		2203	4300	6503	60377797	SO:0001583	missense	6861	exon8			X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"""Synaptotagmins"""	11513	protein-coding gene	gene with protein product	"""synaptotagmin 5"""	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.860G>A	19.37:g.55685985C>T	ENSP00000346265:p.Gly287Asp		60377797	NM_003180	B3KWJ8|B7Z300|Q86X72	Missense_Mutation	SNP	ENST00000354308.3	37	CCDS12919.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325151	0.81580	.	.	ENSG00000129990	ENST00000537500;ENST00000354308;ENST00000543844	T;T	0.72394	-0.65;-0.65	3.42	3.42	0.39159	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.77432	0.4129	L	0.48362	1.52	0.51233	D	0.999911	D;D;D	0.69078	0.997;0.995;0.995	D;D;D	0.70016	0.967;0.919;0.967	T	0.76127	-0.3073	10	0.34782	T	0.22	.	14.7937	0.69863	0.0:1.0:0.0:0.0	.	283;286;287	B7Z300;Q4FD32;O00445	.;.;SYT5_HUMAN	D	287;287;283	ENSP00000442896:G287D;ENSP00000346265:G287D	ENSP00000346265:G287D	G	-	2	0	SYT5	60377797	0.823000	0.29233	0.962000	0.40283	0.878000	0.50629	3.079000	0.50104	2.220000	0.72140	0.561000	0.74099	GGC		0.517	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1	NM_003180	
CCDC106	29903	broad.mit.edu	37	19	56163994	56163994	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:56163994G>A	ENST00000586790.1	+	5	1629	c.725G>A	c.(724-726)cGc>cAc	p.R242H	CCDC106_ENST00000591241.1_Missense_Mutation_p.R207H|CCDC106_ENST00000591578.1_Missense_Mutation_p.R242H|U2AF2_ENST00000450554.2_5'Flank|CCDC106_ENST00000588740.1_Missense_Mutation_p.R242H|CCDC106_ENST00000308964.3_Missense_Mutation_p.R242H|U2AF2_ENST00000308924.4_5'Flank			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	242						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.R242H(2)		endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		TCCAAGGAGCGCCTGCTCGAG	0.657																																					p.R242H												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G725A	19						.						54.0	58.0	57.0					19																	56163994		2203	4300	6503	60855806	SO:0001583	missense	29903	exon6			AF054984	CCDS33118.1	19q13.42	2013-09-20			ENSG00000173581	ENSG00000173581			30181	protein-coding gene	gene with protein product		613478				8619474, 9110174	Standard	XM_005258827		Approved	HSU79303	uc002qlr.3	Q9BWC9	OTTHUMG00000180907	ENST00000586790.1:c.725G>A	19.37:g.56163994G>A	ENSP00000465757:p.Arg242His		60855806	NM_013301	B3KUF9|D3K183|Q99786	Missense_Mutation	SNP	ENST00000586790.1	37	CCDS33118.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.645841	0.87958	.	.	ENSG00000173581	ENST00000308964	.	.	.	3.64	3.64	0.41730	.	0.147386	0.45606	D	0.000360	T	0.61362	0.2341	N	0.22421	0.69	0.44373	D	0.997276	D	0.76494	0.999	D	0.67231	0.95	T	0.66602	-0.5882	9	0.59425	D	0.04	-15.5563	14.6517	0.68803	0.0:0.0:1.0:0.0	.	242	Q9BWC9	CC106_HUMAN	H	242	.	ENSP00000309681:R242H	R	+	2	0	CCDC106	60855806	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	5.355000	0.66046	2.044000	0.60594	0.555000	0.69702	CGC		0.657	CCDC106-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453593.1	NM_013301	
NLRP5	126206	broad.mit.edu	37	19	56538774	56538774	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:56538774G>A	ENST00000390649.3	+	7	1175	c.1175G>A	c.(1174-1176)cGc>cAc	p.R392H		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	392	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.R392H(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		ACCCTCATACGCAGTCTGCTG	0.552																																					p.R392H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1175A	19						.						48.0	48.0	48.0					19																	56538774		2094	4212	6306	61230586	SO:0001583	missense	126206	exon7			AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1175G>A	19.37:g.56538774G>A	ENSP00000375063:p.Arg392His		61230586	NM_153447	A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	G	0.938	-0.710348	0.03230	.	.	ENSG00000171487	ENST00000390649	D	0.81499	-1.5	3.35	-6.71	0.01760	NACHT nucleoside triphosphatase (1);	1.995850	0.02586	N	0.099441	T	0.55065	0.1897	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.56685	-0.7938	10	0.15066	T	0.55	.	16.8368	0.85958	0.1869:0.0:0.8131:0.0	.	392	P59047	NALP5_HUMAN	H	392	ENSP00000375063:R392H	ENSP00000375063:R392H	R	+	2	0	NLRP5	61230586	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.310000	0.00517	-2.159000	0.00787	-1.708000	0.00717	CGC		0.552	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447	
ZNF835	90485	broad.mit.edu	37	19	57176195	57176195	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:57176195C>T	ENST00000537055.2	-	2	603	c.372G>A	c.(370-372)gcG>gcA	p.A124A		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	124					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.A146A(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GTAAGATGAACGCTGAACAGT	0.627																																					p.A146A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G438A	19						.						72.0	85.0	81.0					19																	57176195		2203	4300	6503	61868007	SO:0001819	synonymous_variant	90485	exon2			AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.372G>A	19.37:g.57176195C>T			61868007	NM_001005850	B7Z5Y0|G3V1S0	Silent	SNP	ENST00000537055.2	37	CCDS56105.1																																																																																				0.627	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850	
ZNF211	10520	broad.mit.edu	37	19	58153185	58153185	+	Missense_Mutation	SNP	G	G	A	rs191091619	byFrequency	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:58153185G>A	ENST00000347302.3	+	3	1510	c.1331G>A	c.(1330-1332)cGg>cAg	p.R444Q	ZNF211_ENST00000391703.3_Missense_Mutation_p.R383Q|ZNF211_ENST00000544273.1_Missense_Mutation_p.R456Q|ZNF211_ENST00000240731.4_Missense_Mutation_p.R457Q|ZNF211_ENST00000541801.1_Missense_Mutation_p.R435Q|ZNF211_ENST00000254182.7_Missense_Mutation_p.R435Q|ZNF211_ENST00000299871.5_Missense_Mutation_p.R509Q|ZNF211_ENST00000420680.1_Missense_Mutation_p.R448Q	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	444					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.R457Q(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGTTCACATCGGAAAGTCCAC	0.483													G|||	3	0.000599042	0.0	0.0014	5008	,	,		20729	0.0		0.002	False		,,,				2504	0.0				p.R444Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1331A	19						.	G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	92.0	93.0	93.0		1370,1331	-2.0	0.1	19		93	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	ZNF211	NM_006385.3,NM_198855.2	43,43	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	benign,benign	457/578,444/565	58153185	4,13002	2203	4300	6503	62844997	SO:0001583	missense	10520	exon3			U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"""Zinc fingers, C2H2-type"", ""-"""	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.1331G>A	19.37:g.58153185G>A	ENSP00000339562:p.Arg444Gln		62844997	NM_198855	B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Missense_Mutation	SNP	ENST00000347302.3	37	CCDS12957.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	g	2.773	-0.255136	0.05829	0.0	4.65E-4	ENSG00000121417	ENST00000420680;ENST00000347302;ENST00000254182;ENST00000391703;ENST00000541801;ENST00000299871;ENST00000544273;ENST00000240731	T;T;T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26	3.21	-1.97	0.07503	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04452	0.0122	N	0.05592	-0.015	0.21445	N	0.99969	B;B;B;B;B;B	0.33379	0.259;0.259;0.41;0.09;0.304;0.304	B;B;B;B;B;B	0.24394	0.016;0.016;0.053;0.034;0.028;0.028	T	0.32295	-0.9912	9	0.02654	T	1	.	3.1969	0.06636	0.2904:0.0:0.2121:0.4975	.	448;456;509;435;444;457	Q13398-4;Q13398-3;F8WDV2;Q13398-2;Q13398;B9ZVW1	.;.;.;.;ZN211_HUMAN;.	Q	448;444;435;383;435;509;456;457	ENSP00000399193:R448Q;ENSP00000339562:R444Q;ENSP00000254182:R435Q;ENSP00000375584:R383Q;ENSP00000442601:R435Q;ENSP00000299871:R509Q;ENSP00000441386:R456Q;ENSP00000240731:R457Q	ENSP00000240731:R457Q	R	+	2	0	ZNF211	62844997	0.000000	0.05858	0.053000	0.19242	0.992000	0.81027	-0.947000	0.03901	-0.142000	0.11354	0.585000	0.79938	CGG		0.483	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1		
ZNF211	10520	broad.mit.edu	37	19	58153436	58153436	+	Missense_Mutation	SNP	C	C	A	rs12979532		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:58153436C>A	ENST00000347302.3	+	3	1761	c.1582C>A	c.(1582-1584)Cgc>Agc	p.R528S	ZNF211_ENST00000391703.3_Missense_Mutation_p.R467S|ZNF211_ENST00000544273.1_Missense_Mutation_p.R540S|ZNF211_ENST00000240731.4_Missense_Mutation_p.R541S|ZNF211_ENST00000541801.1_Missense_Mutation_p.R519S|ZNF211_ENST00000254182.7_Missense_Mutation_p.R519S|ZNF211_ENST00000299871.5_Missense_Mutation_p.R593S|ZNF211_ENST00000420680.1_Missense_Mutation_p.R532S	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	528					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.R541S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CATTCAACACCGCAGAGTTCA	0.453																																					p.R528S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1582A	19						.						107.0	104.0	105.0					19																	58153436		2203	4300	6503	62845248	SO:0001583	missense	10520	exon3			U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"""Zinc fingers, C2H2-type"", ""-"""	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.1582C>A	19.37:g.58153436C>A	ENSP00000339562:p.Arg528Ser		62845248	NM_198855	B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Missense_Mutation	SNP	ENST00000347302.3	37	CCDS12957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	19.56|19.56	3.850717|3.850717	0.71719|0.71719	.|.	.|.	ENSG00000121417|ENSG00000121417	ENST00000407202|ENST00000420680;ENST00000347302;ENST00000254182;ENST00000391703;ENST00000541801;ENST00000299871;ENST00000544273;ENST00000240731	.|T;T;T;T;T;T;T;T	.|0.17691	.|2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26	3.23|3.23	-5.97|-5.97	0.02227|0.02227	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.12178|0.12178	0.0296|0.0296	L|L	0.31294|0.31294	0.92|0.92	0.09310|0.09310	N|N	1|1	.|B;B;P;D;B;B	.|0.57257	.|0.255;0.255;0.906;0.979;0.3;0.3	.|B;B;B;P;B;B	.|0.49665	.|0.045;0.045;0.266;0.618;0.075;0.075	T|T	0.06534|0.06534	-1.0821|-1.0821	5|9	.|0.59425	.|D	.|0.04	.|.	1.449|1.449	0.02371|0.02371	0.4857:0.1904:0.1226:0.2013|0.4857:0.1904:0.1226:0.2013	.|.	.|532;540;593;519;528;541	.|Q13398-4;Q13398-3;F8WDV2;Q13398-2;Q13398;B9ZVW1	.|.;.;.;.;ZN211_HUMAN;.	Q|S	531|532;528;519;467;519;593;540;541	.|ENSP00000399193:R532S;ENSP00000339562:R528S;ENSP00000254182:R519S;ENSP00000375584:R467S;ENSP00000442601:R519S;ENSP00000299871:R593S;ENSP00000441386:R540S;ENSP00000240731:R541S	.|ENSP00000240731:R541S	P|R	+|+	2|1	0|0	ZNF211|ZNF211	62845248|62845248	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.936000|0.936000	0.57629|0.57629	-1.136000|-1.136000	0.03222|0.03222	-1.134000|-1.134000	0.02899|0.02899	-0.225000|-0.225000	0.12378|0.12378	CCG|CGC		0.453	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1		
ZNF551	90233	broad.mit.edu	37	19	58198208	58198208	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:58198208G>A	ENST00000282296.5	+	3	750	c.565G>A	c.(565-567)Gcc>Acc	p.A189T	AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.A173T|AC003006.7_ENST00000599221.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	189					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.A173T(1)		endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GGCCTTCCCAGCCCCCACGGA	0.507																																					p.A173T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G517A	19						.						53.0	55.0	54.0					19																	58198208		2203	4300	6503	62890020	SO:0001583	missense	90233	exon3			BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"""Zinc fingers, C2H2-type"", ""-"""	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.565G>A	19.37:g.58198208G>A	ENSP00000282296:p.Ala189Thr		62890020	NM_138347	B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	ENST00000282296.5	37	CCDS12959.2	.	.	.	.	.	.	.	.	.	.	G	5.355	0.250769	0.10130	.	.	ENSG00000204519	ENST00000356715;ENST00000282296;ENST00000359821	.	.	.	1.92	-0.394	0.12434	Zinc finger, C2H2 (1);	.	.	.	.	T	0.18299	0.0439	N	0.17800	0.525	0.09310	N	1	B	0.25486	0.127	B	0.27608	0.081	T	0.32455	-0.9906	8	0.11794	T	0.64	.	4.8877	0.13712	0.1463:0.2196:0.6341:0.0	.	189	Q7Z340	ZN551_HUMAN	T	189;173;83	.	ENSP00000282296:A173T	A	+	1	0	ZNF551	62890020	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.481000	0.06552	-0.018000	0.14079	-0.273000	0.10243	GCC		0.507	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2	NM_138347	
ZNF135	7694	broad.mit.edu	37	19	58578288	58578288	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:58578288C>T	ENST00000313434.5	+	5	537	c.436C>T	c.(436-438)Ccg>Tcg	p.P146S	ZNF135_ENST00000506786.1_Missense_Mutation_p.P104S|ZNF135_ENST00000511556.1_Missense_Mutation_p.P158S|ZNF135_ENST00000439855.2_Missense_Mutation_p.P146S|ZNF135_ENST00000401053.4_Missense_Mutation_p.P170S|ZNF135_ENST00000359978.6_Missense_Mutation_p.P158S	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	146					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|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.P146S(1)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CCTGGCAGTGCCGGTGGCCTT	0.557																																					p.P158S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C472T	19						.						86.0	72.0	77.0					19																	58578288		2203	4300	6503	63270100	SO:0001583	missense	7694	exon5			U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.436C>T	19.37:g.58578288C>T	ENSP00000321406:p.Pro146Ser		63270100	NM_003436	B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Missense_Mutation	SNP	ENST00000313434.5	37		.	.	.	.	.	.	.	.	.	.	C	4.651	0.120977	0.08881	.	.	ENSG00000176293	ENST00000504540;ENST00000401053;ENST00000359978;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786	T;T;T;T;T;T	0.05382	3.54;3.66;3.57;3.57;3.55;3.45	3.63	-1.82	0.07857	.	.	.	.	.	T	0.03220	0.0094	N	0.19112	0.55	0.09310	N	1	B;B;B	0.10296	0.001;0.001;0.003	B;B;B	0.06405	0.002;0.002;0.002	T	0.48281	-0.9049	9	0.08381	T	0.77	.	6.1707	0.20416	0.4445:0.4583:0.0:0.0972	.	158;146;158	E9PEV2;P52742;Q8N1I7	.;ZN135_HUMAN;.	S	158;170;158;146;146;158;104	ENSP00000441410:P170S;ENSP00000369437:P158S;ENSP00000444828:P146S;ENSP00000321406:P146S;ENSP00000422074:P158S;ENSP00000427691:P104S	ENSP00000321406:P146S	P	+	1	0	ZNF135	63270100	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.294000	0.08309	0.009000	0.14813	-0.319000	0.08680	CCG		0.557	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436	
CD70	970	broad.mit.edu	37	19	6586225	6586225	+	Missense_Mutation	SNP	C	C	T	rs548095306		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:6586225C>T	ENST00000245903.3	-	3	537	c.388G>A	c.(388-390)Gtg>Atg	p.V130M	CD70_ENST00000423145.3_Missense_Mutation_p.V130M	NM_001252.3	NP_001243.1	P32970	CD70_HUMAN	CD70 molecule	130					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protease binding (GO:0002020)|receptor binding (GO:0005102)	p.V130M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|skin(1)	11						CAGATTCCCACGGCCAGGGTG	0.637													c|||	1	0.000199681	0.0	0.0014	5008	,	,		15578	0.0		0.0	False		,,,				2504	0.0				p.V130M	Pancreas(183;2617 2876 10173 34193)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G388A	19						.						101.0	79.0	86.0					19																	6586225		2203	4300	6503	6537225	SO:0001583	missense	970	exon3			L08096	CCDS12170.1	19p13	2013-05-22	2006-10-27	2006-10-27		ENSG00000125726		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11937	protein-coding gene	gene with protein product		602840	"""tumor necrosis factor (ligand) superfamily, member 7"""	CD27LG, TNFSF7		8387892, 8120384	Standard	NM_001252		Approved	CD27L	uc002mfi.3	P32970		ENST00000245903.3:c.388G>A	19.37:g.6586225C>T	ENSP00000245903:p.Val130Met		6537225	NM_001252	B4DPR8|Q53XX4|Q96J57	Missense_Mutation	SNP	ENST00000245903.3	37	CCDS12170.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.125505	0.56721	.	.	ENSG00000125726	ENST00000423145;ENST00000245903	D;D	0.95885	-3.84;-3.84	4.42	0.372	0.16173	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.650979	0.13203	N	0.405839	D	0.93762	0.8006	L	0.29908	0.895	0.09310	N	0.999994	D;D	0.76494	0.999;0.996	D;P	0.67900	0.954;0.821	D	0.85256	0.1047	10	0.72032	D	0.01	-21.1652	2.41	0.04422	0.2321:0.4646:0.0:0.3033	.	130;130	B4DPR8;P32970	.;CD70_HUMAN	M	130	ENSP00000395294:V130M;ENSP00000245903:V130M	ENSP00000245903:V130M	V	-	1	0	CD70	6537225	0.052000	0.20516	0.423000	0.26634	0.018000	0.09664	0.047000	0.14056	0.395000	0.25257	0.556000	0.70494	GTG		0.637	CD70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457860.1		
MUC16	94025	broad.mit.edu	37	19	9043449	9043449	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:9043449C>T	ENST00000397910.4	-	6	36283	c.36080G>A	c.(36079-36081)cGg>cAg	p.R12027Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12029	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.R12027Q(1)|p.R7660Q(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						GATCCAGGACCGATGGTTATA	0.507																																					p.R12027Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G36080A	19						.						70.0	71.0	71.0					19																	9043449		1951	4126	6077	8904449	SO:0001583	missense	94025	exon6			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.36080G>A	19.37:g.9043449C>T	ENSP00000381008:p.Arg12027Gln		8904449	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	5.280	0.237047	0.10023	.	.	ENSG00000181143	ENST00000397910	T	0.02103	4.45	2.98	-5.97	0.02227	.	.	.	.	.	T	0.01320	0.0043	N	0.08118	0	.	.	.	B	0.33198	0.401	B	0.26864	0.074	T	0.35992	-0.9766	8	0.87932	D	0	.	13.0494	0.58946	0.0:0.22:0.0:0.78	.	12027	B5ME49	.	Q	12027	ENSP00000381008:R12027Q	ENSP00000381008:R12027Q	R	-	2	0	MUC16	8904449	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-3.212000	0.00555	-2.427000	0.00559	-0.547000	0.04224	CGG		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
OR7D4	125958	broad.mit.edu	37	19	9324990	9324990	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:9324990G>A	ENST00000308682.2	-	1	552	c.524C>T	c.(523-525)cCg>cTg	p.P175L		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P175L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						GAAGAAATGCGGAATCTCAGT	0.512																																					p.P175L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C524T	19						.						98.0	92.0	94.0					19																	9324990		2203	4300	6503	9185990	SO:0001583	missense	125958	exon1				CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"""GPCR / Class A : Olfactory receptors"""	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.524C>T	19.37:g.9324990G>A	ENSP00000310488:p.Pro175Leu		9185990	NM_001005191	A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Missense_Mutation	SNP	ENST00000308682.2	37	CCDS32901.1	.	.	.	.	.	.	.	.	.	.	G	9.972	1.225877	0.22542	.	.	ENSG00000174667	ENST00000308682	T	0.00063	8.78	4.0	1.58	0.23477	GPCR, rhodopsin-like superfamily (1);	0.108661	0.41938	D	0.000792	T	0.00356	0.0011	M	0.73372	2.23	0.09310	N	1	D	0.89917	1.0	D	0.76575	0.988	T	0.42783	-0.9431	10	0.66056	D	0.02	.	9.7377	0.40397	0.0:0.0:0.4391:0.5609	.	175	Q8NG98	OR7D4_HUMAN	L	175	ENSP00000310488:P175L	ENSP00000310488:P175L	P	-	2	0	OR7D4	9185990	0.007000	0.16637	0.035000	0.18076	0.041000	0.13682	1.759000	0.38420	1.006000	0.39211	0.436000	0.28706	CCG		0.512	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1		
ZNF440	126070	broad.mit.edu	37	19	11942525	11942525	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:11942525delA	ENST00000304060.5	+	4	698	c.534delA	c.(532-534)ggafs	p.G178fs		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	178					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.T180fs*13(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AAGTATGTGGAAAAACCTTTA	0.413																																					p.G178fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.534delA	19						.						117.0	120.0	119.0					19																	11942525		2203	4300	6503	11803525	SO:0001589	frameshift_variant	126070	exon4			AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"""Zinc fingers, C2H2-type"", ""-"""	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.534delA	19.37:g.11942525delA	ENSP00000305373:p.Gly178fs		11803525	NM_152357	Q8N1R9	Frame_Shift_Del	DEL	ENST00000304060.5	37	CCDS42503.1																																																																																				0.413	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344508.1	NM_152357	
ZNF446	55663	broad.mit.edu	37	19	58991076	58991076	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr19:58991076G>A	ENST00000594369.1	+	5	1075	c.694G>A	c.(694-696)Ggc>Agc	p.G232S	ZNF446_ENST00000335841.4_Intron|ZNF446_ENST00000596341.1_Missense_Mutation_p.G232S	NM_017908.2	NP_060378.1	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	232	KRAB.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular space (GO:0005615)|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.G232S(1)		endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GGAGAAGTACGGCACAGTGGT	0.662																																					p.G232S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G694A	19						.						101.0	90.0	93.0					19																	58991076		2203	4300	6503	63682888	SO:0001583	missense	55663	exon5				CCDS12982.1	19q13.43	2013-01-09				ENSG00000083838		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21036	protein-coding gene	gene with protein product							Standard	NM_017908		Approved	ZKSCAN20, FLJ20626, ZSCAN52	uc002qsz.3	Q9NWS9		ENST00000594369.1:c.694G>A	19.37:g.58991076G>A	ENSP00000472802:p.Gly232Ser		63682888	NM_017908		Missense_Mutation	SNP	ENST00000594369.1	37	CCDS12982.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637578	0.67130	.	.	ENSG00000083838	ENST00000335841;ENST00000540481	.	.	.	4.99	1.59	0.23543	Krueppel-associated box (3);	0.409426	0.17964	N	0.156093	T	0.34803	0.0910	N	0.03268	-0.37	0.43808	D	0.996362	D;D	0.76494	0.996;0.999	P;P	0.60173	0.788;0.87	T	0.25916	-1.0118	9	0.54805	T	0.06	-19.6179	5.502	0.16834	0.1799:0.163:0.6571:0.0	.	232;232	F5H201;Q9NWS9	.;ZN446_HUMAN	S	232	.	ENSP00000336565:G232S	G	+	1	0	ZNF446	63682888	0.000000	0.05858	0.495000	0.27527	0.819000	0.46315	0.481000	0.22260	0.361000	0.24292	0.655000	0.94253	GGC		0.662	ZNF446-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467052.1	NM_017908	
TRIM46	80128	broad.mit.edu	37	1	155156533	155156534	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:155156533_155156534insC	ENST00000334634.4	+	10	2147_2148	c.2147_2148insC	c.(2146-2151)tgccccfs	p.CP716fs	TRIM46_ENST00000545012.1_Frame_Shift_Ins_p.CP590fs|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000392451.2_3'UTR|RP11-201K10.3_ENST00000473363.2_Intron|MUC1_ENST00000462215.1_5'Flank|TRIM46_ENST00000368382.1_Frame_Shift_Ins_p.CP693fs	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	716	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.L718fs*28(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTCTTGGAGTGCCCCCTGGACT	0.639																																					p.C716fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.2147_2148insC	1						.																																			153423158	SO:0001589	frameshift_variant	80128	exon10				CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.2152dupC	1.37:g.155156538_155156538dupC	ENSP00000334657:p.Cys716fs		153423157	NM_025058	A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Frame_Shift_Ins	INS	ENST00000334634.4	37	CCDS1097.1																																																																																				0.639	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058	
MTR	4548	broad.mit.edu	37	1	237038051	237038052	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:237038051_237038052insA	ENST00000366577.5	+	24	2893_2894	c.2499_2500insA	c.(2500-2502)actfs	p.T834fs	MTR_ENST00000535889.1_Frame_Shift_Ins_p.T783fs	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	834	B12-binding. {ECO:0000255|PROSITE- ProRule:PRU00666}.				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.T834fs*6(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)	CAGGACTCATCACTCCTTCCCT	0.347																																					p.I833fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.2499_2500insA	1						.																																			235104675	SO:0001589	frameshift_variant	4548	exon24			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.2500dupA	1.37:g.237038052_237038052dupA	ENSP00000355536:p.Thr834fs		235104674	NM_000254	A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Frame_Shift_Ins	INS	ENST00000366577.5	37	CCDS1614.1																																																																																				0.347	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254	
CELSR2	1952	broad.mit.edu	37	1	109813581	109813581	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:109813581G>T	ENST00000271332.3	+	25	7577	c.7516G>T	c.(7516-7518)Ggg>Tgg	p.G2506W	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2506					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.G2506W(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CGAGGGCTACGGGAACCCTGA	0.642																																					p.G2506W	NSCLC(158;1285 2011 34800 34852 42084)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7516T	1						.						158.0	151.0	153.0					1																	109813581		2203	4300	6503	109615104	SO:0001583	missense	1952	exon25			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.7516G>T	1.37:g.109813581G>T	ENSP00000271332:p.Gly2506Trp		109615104	NM_001408	Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	CCDS796.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650366	0.87958	.	.	ENSG00000143126	ENST00000271332	T	0.49139	0.79	4.59	4.59	0.56863	GPCR, family 2-like (1);	.	.	.	.	T	0.78278	0.4258	H	0.97983	4.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87155	0.2211	9	0.87932	D	0	.	17.5928	0.88001	0.0:0.0:1.0:0.0	.	2506	Q9HCU4	CELR2_HUMAN	W	2506	ENSP00000271332:G2506W	ENSP00000271332:G2506W	G	+	1	0	CELSR2	109615104	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.366000	0.79548	2.377000	0.81083	0.561000	0.74099	GGG		0.642	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408	
KCNA10	3744	broad.mit.edu	37	1	111060686	111060686	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:111060686G>A	ENST00000369771.2	-	1	1111	c.724C>T	c.(724-726)Cgg>Tgg	p.R242W		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	242					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)	p.R242W(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	CTATCCTCCCGGAACTCTGGC	0.562																																					p.R242W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C724T	1						.						124.0	106.0	112.0					1																	111060686		2203	4300	6503	110862209	SO:0001583	missense	3744	exon1			U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.724C>T	1.37:g.111060686G>A	ENSP00000358786:p.Arg242Trp		110862209	NM_005549		Missense_Mutation	SNP	ENST00000369771.2	37	CCDS826.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.168635	0.57584	.	.	ENSG00000143105	ENST00000369771	T	0.62105	0.05	6.07	5.11	0.69529	.	0.056594	0.64402	D	0.000007	T	0.72946	0.3524	M	0.90425	3.115	0.42665	D	0.99349	D	0.76494	0.999	P	0.55785	0.784	T	0.78725	-0.2092	10	0.87932	D	0	.	12.1295	0.53934	0.0:0.0:0.7095:0.2905	.	242	Q16322	KCA10_HUMAN	W	242	ENSP00000358786:R242W	ENSP00000358786:R242W	R	-	1	2	KCNA10	110862209	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.008000	0.40893	2.884000	0.98904	0.655000	0.94253	CGG		0.562	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549	
LRIG2	9860	broad.mit.edu	37	1	113666655	113666655	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:113666655A>G	ENST00000361127.5	+	18	3328	c.3130A>G	c.(3130-3132)Agg>Ggg	p.R1044G	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	1044					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R1044G(1)		breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		GTCCTGCCACAGGTTACAGGA	0.483																																					p.R1044G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3130G	1						.						120.0	105.0	110.0					1																	113666655		2203	4300	6503	113468178	SO:0001583	missense	9860	exon18			AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.3130A>G	1.37:g.113666655A>G	ENSP00000355396:p.Arg1044Gly		113468178	NM_014813	Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	37	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	A	10.45	1.353038	0.24512	.	.	ENSG00000198799	ENST00000361127	T	0.64991	-0.13	5.9	3.53	0.40419	.	0.079977	0.53938	D	0.000052	T	0.38532	0.1044	L	0.57536	1.79	0.31815	N	0.626774	B	0.27559	0.181	B	0.24541	0.054	T	0.16305	-1.0407	10	0.34782	T	0.22	.	12.9089	0.58169	0.7436:0.2564:0.0:0.0	.	1044	O94898	LRIG2_HUMAN	G	1044	ENSP00000355396:R1044G	ENSP00000355396:R1044G	R	+	1	2	LRIG2	113468178	0.990000	0.36364	0.994000	0.49952	0.163000	0.22366	2.611000	0.46334	0.458000	0.26988	-0.321000	0.08615	AGG		0.483	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813	
HIPK1	204851	broad.mit.edu	37	1	114511207	114511207	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:114511207T>C	ENST00000369558.1	+	13	2940	c.2708T>C	c.(2707-2709)gTg>gCg	p.V903A	HIPK1_ENST00000340480.4_Missense_Mutation_p.V529A|HIPK1_ENST00000426820.2_Missense_Mutation_p.V903A|HIPK1_ENST00000369553.1_Missense_Mutation_p.V509A|HIPK1_ENST00000406344.1_Missense_Mutation_p.V509A|HIPK1_ENST00000369561.4_Missense_Mutation_p.V869A|HIPK1_ENST00000369555.2_Missense_Mutation_p.V858A|HIPK1_ENST00000369559.4_Missense_Mutation_p.V903A|HIPK1_ENST00000369554.2_Missense_Mutation_p.V858A			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	903	Interaction with TP53.|Required for localization to nuclear speckles. {ECO:0000250}.|SUMO interaction motifs (SIM); required for nuclear localization and kinase activity. {ECO:0000250}.				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.V903A(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)		AGCCCTCCTGTGAGTGTCATC	0.483																																					p.V529A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1586C	1						.						124.0	108.0	113.0					1																	114511207		2203	4300	6503	114312730	SO:0001583	missense	204851	exon12			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.2708T>C	1.37:g.114511207T>C	ENSP00000358571:p.Val903Ala		114312730	NM_198269	A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	CCDS867.1	.	.	.	.	.	.	.	.	.	.	T	28.5	4.929401	0.92389	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561;ENST00000340480;ENST00000369553;ENST00000406344	T;T;T;T;T;T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000017	T	0.38161	0.1030	L	0.54323	1.7	0.80722	D	1	D;D;P;P	0.89917	1.0;1.0;0.924;0.954	D;D;P;D	0.91635	0.999;0.996;0.9;0.954	T	0.19418	-1.0306	10	0.56958	D	0.05	.	15.8895	0.79286	0.0:0.0:0.0:1.0	.	195;509;903;903	E9PCF6;Q86Z02-4;Q86Z02;Q86Z02-2	.;.;HIPK1_HUMAN;.	A	974;903;903;858;858;903;869;529;509;509	ENSP00000407442:V974A;ENSP00000358572:V903A;ENSP00000409673:V903A;ENSP00000358567:V858A;ENSP00000358568:V858A;ENSP00000358571:V903A;ENSP00000358574:V869A;ENSP00000340956:V529A;ENSP00000358566:V509A;ENSP00000384960:V509A	ENSP00000340956:V529A	V	+	2	0	HIPK1	114312730	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.698000	0.84413	2.153000	0.67306	0.459000	0.35465	GTG		0.483	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268	
DENND2C	163259	broad.mit.edu	37	1	115147580	115147580	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:115147580C>G	ENST00000393274.1	-	11	2255	c.1630G>C	c.(1630-1632)Gat>Cat	p.D544H	DENND2C_ENST00000393276.3_Missense_Mutation_p.D487H|DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Missense_Mutation_p.D544H	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	544	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.D487H(1)		NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTTTGAATCAGGAAAACAA	0.353																																					p.D487H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1459C	1						.						119.0	113.0	115.0					1																	115147580		2203	4300	6503	114949103	SO:0001583	missense	163259	exon8				CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.1630G>C	1.37:g.115147580C>G	ENSP00000376955:p.Asp544His		114949103	NM_198459	B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	ENST00000393274.1	37	CCDS58018.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.927760	0.92389	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.47869	0.83;0.83;0.83	5.86	5.86	0.93980	uDENN (3);	0.000000	0.85682	D	0.000000	T	0.69620	0.3131	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.72683	-0.4219	10	0.87932	D	0	.	20.1772	0.98182	0.0:1.0:0.0:0.0	.	544;487	Q68D51;Q68D51-3	DEN2C_HUMAN;.	H	487;544;544;544	ENSP00000376957:D487H;ENSP00000376955:D544H;ENSP00000376958:D544H	ENSP00000358553:D544H	D	-	1	0	DENND2C	114949103	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.778000	0.95560	0.655000	0.94253	GAT		0.353	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	NM_198459	
MTHFR	4524	broad.mit.edu	37	1	11854026	11854026	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:11854026C>T	ENST00000376592.1	-	8	1596	c.1468G>A	c.(1468-1470)Ggg>Agg	p.G490R	MTHFR_ENST00000376590.3_Missense_Mutation_p.G490R|MTHFR_ENST00000376585.1_Missense_Mutation_p.G531R|MTHFR_ENST00000376583.3_Missense_Mutation_p.G531R			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	490					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)	p.G490R(1)		NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|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)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	GACGGCTTCCCGTTGATGTTG	0.662																																					p.G490R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1468A	1						.						90.0	95.0	93.0					1																	11854026		2203	4300	6503	11776613	SO:0001583	missense	4524	exon9			BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"""5,10-methylenetetrahydrofolate reductase (NADPH)"""			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.1468G>A	1.37:g.11854026C>T	ENSP00000365777:p.Gly490Arg		11776613	NM_005957	B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Missense_Mutation	SNP	ENST00000376592.1	37	CCDS137.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.901759	0.92035	.	.	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585	T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67	4.71	4.71	0.59529	.	0.049246	0.85682	D	0.000000	D	0.86569	0.5964	M	0.91920	3.255	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.65874	0.939;0.921	D	0.90193	0.4251	10	0.87932	D	0	.	16.6786	0.85286	0.0:1.0:0.0:0.0	.	490;531	P42898;Q5SNW6	MTHR_HUMAN;.	R	490;531;490;531	ENSP00000365777:G490R;ENSP00000365767:G531R;ENSP00000365775:G490R;ENSP00000365770:G531R	ENSP00000365767:G531R	G	-	1	0	MTHFR	11776613	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.380000	0.79704	2.180000	0.69256	0.462000	0.41574	GGG		0.662	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006538.1	NM_005957	
CASQ2	845	broad.mit.edu	37	1	116269681	116269681	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:116269681C>A	ENST00000261448.5	-	6	908	c.669G>T	c.(667-669)gaG>gaT	p.E223D	CASQ2_ENST00000456138.2_Missense_Mutation_p.E152D|CASQ2_ENST00000488931.1_5'UTR	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	223					cardiac muscle contraction (GO:0060048)|cellular response to caffeine (GO:0071313)|detection of calcium ion (GO:0005513)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|protein polymerization (GO:0051258)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of heart rate (GO:0002027)|regulation of membrane repolarization (GO:0060306)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|sequestering of calcium ion (GO:0051208)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|junctional sarcoplasmic reticulum membrane (GO:0014701)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)	p.E223D(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TGGCAATGGGCTCATCCATAA	0.438																																					p.E223D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G669T	1						.						78.0	70.0	72.0					1																	116269681		2203	4300	6503	116071204	SO:0001583	missense	845	exon6			BC022288	CCDS884.1	1p13.1	2014-09-17			ENSG00000118729	ENSG00000118729		"""Protein disulfide isomerases"""	1513	protein-coding gene	gene with protein product		114251				8406504	Standard	NM_001232		Approved	PDIB2	uc001efx.4	O14958	OTTHUMG00000011970	ENST00000261448.5:c.669G>T	1.37:g.116269681C>A	ENSP00000261448:p.Glu223Asp		116071204	NM_001232	B2R7M6|B4DIB0|Q5T1D2|Q8TBW8	Missense_Mutation	SNP	ENST00000261448.5	37	CCDS884.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.694994	0.30052	.	.	ENSG00000118729	ENST00000261448;ENST00000456138;ENST00000446755	T;T	0.78816	-1.21;-1.21	5.76	1.7	0.24286	Thioredoxin-like fold (2);	0.048349	0.85682	D	0.000000	T	0.52533	0.1740	L	0.54323	1.7	0.47905	D	0.999544	B;B	0.13145	0.007;0.002	B;B	0.17722	0.019;0.017	T	0.46978	-0.9152	10	0.29301	T	0.29	-22.9633	7.1237	0.25458	0.0:0.5772:0.2253:0.1975	.	152;223	B4DIB0;O14958	.;CASQ2_HUMAN	D	223;152;223	ENSP00000261448:E223D;ENSP00000403858:E152D	ENSP00000261448:E223D	E	-	3	2	CASQ2	116071204	1.000000	0.71417	0.993000	0.49108	0.695000	0.40330	0.949000	0.29109	0.352000	0.24053	-0.181000	0.13052	GAG		0.438	CASQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033091.1	NM_001232	
GDAP2	54834	broad.mit.edu	37	1	118426126	118426126	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:118426126C>T	ENST00000369443.5	-	11	1480	c.1231G>A	c.(1231-1233)Gat>Aat	p.D411N	GDAP2_ENST00000464026.1_5'UTR|GDAP2_ENST00000369442.3_Missense_Mutation_p.D411N	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	411	CRAL-TRIO.				response to retinoic acid (GO:0032526)	lysosomal membrane (GO:0005765)		p.D411N(1)		kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		TCAACAACATCGTAGAGTTTC	0.363																																					p.D411N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1231A	1						.						94.0	91.0	92.0					1																	118426126		2203	4300	6503	118227649	SO:0001583	missense	54834	exon11			AK000149	CCDS897.1, CCDS44201.1	1q11	2011-10-20			ENSG00000196505	ENSG00000196505			18010	protein-coding gene	gene with protein product						1021725	Standard	NM_017686		Approved	FLJ20142, dJ776P7.1, MACROD3	uc001ehf.3	Q9NXN4	OTTHUMG00000012199	ENST00000369443.5:c.1231G>A	1.37:g.118426126C>T	ENSP00000358451:p.Asp411Asn		118227649	NM_017686	Q96DZ0	Missense_Mutation	SNP	ENST00000369443.5	37	CCDS897.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158213	0.78114	.	.	ENSG00000196505	ENST00000369443;ENST00000369442	T;T	0.64438	-0.1;-0.1	4.82	4.82	0.62117	Cellular retinaldehyde-binding/triple function, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.45418	0.1341	N	0.10874	0.06	0.80722	D	1	P;D	0.67145	0.891;0.996	B;P	0.58331	0.142;0.837	T	0.45775	-0.9238	10	0.14252	T	0.57	-19.9091	17.9254	0.88982	0.0:1.0:0.0:0.0	.	411;411	Q9NXN4-2;Q9NXN4	.;GDAP2_HUMAN	N	411	ENSP00000358451:D411N;ENSP00000358450:D411N	ENSP00000358450:D411N	D	-	1	0	GDAP2	118227649	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.487000	0.81328	2.233000	0.73108	0.555000	0.69702	GAT		0.363	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033732.2	NM_017686	
VPS13D	55187	broad.mit.edu	37	1	12382717	12382717	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:12382717A>G	ENST00000358136.3	+	34	7959	c.7829A>G	c.(7828-7830)gAc>gGc	p.D2610G	VPS13D_ENST00000356315.4_Missense_Mutation_p.D2610G	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.D2610G(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)		CTGGAGTCAGACTCCGTTGGC	0.493																																					p.D2610G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A7829G	1						.						126.0	119.0	122.0					1																	12382717		2203	4300	6503	12305304	SO:0001583	missense	55187	exon34			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.7829A>G	1.37:g.12382717A>G	ENSP00000350854:p.Asp2610Gly		12305304	NM_018156		Missense_Mutation	SNP	ENST00000358136.3	37	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.68|11.68	1.709854|1.709854	0.30322|0.30322	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136|ENST00000011700	T;T|.	0.53640|.	0.62;0.61|.	5.86|5.86	-6.04|-6.04	0.02178|0.02178	.|.	1.068830|.	0.07077|.	N|.	0.836376|.	T|T	0.15305|0.15305	0.0369|0.0369	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B;B|.	0.18013|.	0.0;0.011;0.025|.	B;B;B|.	0.18263|.	0.0;0.021;0.015|.	T|T	0.34453|0.34453	-0.9828|-0.9828	10|5	0.24483|.	T|.	0.36|.	.|.	8.7342|8.7342	0.34519|0.34519	0.3905:0.3511:0.2583:0.0|0.3905:0.3511:0.2583:0.0	.|.	517;2610;2610|.	B1AJZ2;Q5THJ4-2;Q5THJ4|.	.;.;VP13D_HUMAN|.	G|A	2610|1433	ENSP00000348666:D2610G;ENSP00000350854:D2610G|.	ENSP00000348666:D2610G|.	D|T	+|+	2|1	0|0	VPS13D|VPS13D	12305304|12305304	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	0.269000|0.269000	0.18589|0.18589	-0.692000|-0.692000	0.05128|0.05128	0.533000|0.533000	0.62120|0.62120	GAC|ACT		0.493	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378	
PRDM2	7799	broad.mit.edu	37	1	14142923	14142923	+	Splice_Site	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:14142923T>C	ENST00000235372.7	+	9	5894	c.5038T>C	c.(5038-5040)Tac>Cac	p.Y1680H	PRDM2_ENST00000376048.5_Splice_Site_p.A171A|PRDM2_ENST00000503842.1_Splice_Site_p.A7A|PRDM2_ENST00000505823.1_Splice_Site_p.A7A	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1680					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.Y1680H(1)		endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CCTGCACAGCTACAGCCTCCG	0.607																																					p.Y1680H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T5038C	1						.						84.0	81.0	82.0					1																	14142923		2203	4300	6503	14015510	SO:0001630	splice_region_variant	7799	exon9			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.5037-1T>C	1.37:g.14142923T>C			14015510	NM_012231	B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	CCDS150.1	.	.	.	.	.	.	.	.	.	.	T	17.05	3.289470	0.59976	.	.	ENSG00000116731	ENST00000235372	T	0.01647	4.71	5.07	5.07	0.68467	.	0.235442	0.30177	N	0.010236	T	0.04318	0.0119	L	0.50333	1.59	0.80722	D	1	D	0.55385	0.971	P	0.52159	0.691	T	0.47522	-0.9111	10	0.52906	T	0.07	.	11.1471	0.48436	0.0:0.0:0.0:1.0	.	1680	Q13029	PRDM2_HUMAN	H	1680	ENSP00000235372:Y1680H	ENSP00000235372:Y1680H	Y	+	1	0	PRDM2	14015510	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.597000	0.54031	2.114000	0.64651	0.533000	0.62120	TAC		0.607	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231	Missense_Mutation
ADAM30	11085	broad.mit.edu	37	1	120438507	120438507	+	Silent	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:120438507G>T	ENST00000369400.1	-	1	611	c.453C>A	c.(451-453)gcC>gcA	p.A151A		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	151					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A151A(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AACTGGGAGAGGCCTTGAGGG	0.453																																					p.A151A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C453A	1						.						86.0	89.0	88.0					1																	120438507		2203	4300	6503	120240030	SO:0001819	synonymous_variant	11085	exon1			AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.453C>A	1.37:g.120438507G>T			120240030	NM_021794	A8K8W8|Q5T3X6|Q9UKF1	Silent	SNP	ENST00000369400.1	37	CCDS907.1																																																																																				0.453	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794	
PDE4DIP	9659	broad.mit.edu	37	1	144857612	144857612	+	Splice_Site	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:144857612C>A	ENST00000369354.3	-	39	6631	c.6442G>T	c.(6442-6444)Ggc>Tgc	p.G2148C	RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369356.4_Splice_Site_p.G2148C|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369359.4_Splice_Site_p.G2284C|PDE4DIP_ENST00000530740.1_Splice_Site_p.G2233C|PDE4DIP_ENST00000313382.9_Splice_Site_p.G2042C			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2148					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.G2148C(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCATATTTACCATTTGCTCTG	0.443			T	PDGFRB	MPD																																p.G2042C			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6124T	1						.						275.0	306.0	295.0					1																	144857612		2203	4296	6499	143568969	SO:0001630	splice_region_variant	9659	exon41			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6442+1G>T	1.37:g.144857612C>A			143568969	NM_001198832	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	CCDS30824.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	16.62|16.62	3.174475|3.174475	0.57692|0.57692	.|.	.|.	ENSG00000178104|ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359|ENST00000530130	T;T;T;T;T|.	0.01685|.	4.69;4.74;4.76;4.78;4.75|.	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	.|.	.|.	.|.	.|.	T|T	0.61173|0.61173	0.2326|0.2326	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	P;P|.	0.48407|.	0.91;0.896|.	B;B|.	0.43478|.	0.421;0.302|.	T|T	0.59789|0.59789	-0.7388|-0.7388	8|5	.|.	.|.	.|.	.|.	15.9054|15.9054	0.79423|0.79423	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2042;2148|.	Q5VU43-3;Q5VU43|.	.;MYOME_HUMAN|.	C|I	2042;2148;2148;2233;2284|224	ENSP00000327209:G2042C;ENSP00000358360:G2148C;ENSP00000358363:G2148C;ENSP00000435654:G2233C;ENSP00000358366:G2284C|.	.|.	G|M	-|-	1|3	0|0	PDE4DIP|PDE4DIP	143568969|143568969	0.998000|0.998000	0.40836|0.40836	0.996000|0.996000	0.52242|0.52242	0.420000|0.420000	0.31355|0.31355	2.505000|2.505000	0.45424|0.45424	2.428000|2.428000	0.82296|0.82296	0.555000|0.555000	0.69702|0.69702	GGC|ATG		0.443	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359	Missense_Mutation
POGZ	23126	broad.mit.edu	37	1	151400770	151400770	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:151400770C>T	ENST00000271715.2	-	6	1002	c.688G>A	c.(688-690)Gtc>Atc	p.V230I	POGZ_ENST00000540984.1_Intron|POGZ_ENST00000409503.1_Missense_Mutation_p.V230I|POGZ_ENST00000491586.1_Missense_Mutation_p.V177I|POGZ_ENST00000392723.1_Missense_Mutation_p.V177I|POGZ_ENST00000361398.3_Missense_Mutation_p.V177I|POGZ_ENST00000368863.2_Missense_Mutation_p.V135I|POGZ_ENST00000531094.1_Missense_Mutation_p.V177I	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	230					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V230I(1)		NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCCGGGATGACGGTGGTGAAG	0.587																																					p.V135I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G403A	1						.						278.0	267.0	271.0					1																	151400770		2203	4300	6503	149667394	SO:0001583	missense	23126	exon4			AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.688G>A	1.37:g.151400770C>T	ENSP00000271715:p.Val230Ile		149667394	NM_145796	B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	ENST00000271715.2	37	CCDS997.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395206	0.83011	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000491586;ENST00000437847	D;D;D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5;-1.5;-1.5	5.04	5.04	0.67666	.	0.000000	0.64402	D	0.000009	T	0.79822	0.4512	N	0.19112	0.55	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.999;0.968;0.999;0.994;0.992;0.981;0.999	D;P;D;D;D;D;D	0.76071	0.972;0.854;0.987;0.965;0.952;0.931;0.972	D	0.83611	0.0134	10	0.72032	D	0.01	-17.3938	17.1134	0.86682	0.0:1.0:0.0:0.0	.	177;230;135;230;177;177;230	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-4;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;.;POGZ_HUMAN	I	177;230;177;135;230;177;177;230	ENSP00000376484:V177I;ENSP00000271715:V230I;ENSP00000354467:V177I;ENSP00000357856:V135I;ENSP00000386836:V230I;ENSP00000431259:V177I;ENSP00000418408:V177I	ENSP00000271715:V230I	V	-	1	0	POGZ	149667394	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	3.878000	0.56130	2.615000	0.88500	0.467000	0.42956	GTC		0.587	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171	
TDRKH	11022	broad.mit.edu	37	1	151747628	151747628	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:151747628C>T	ENST00000368822.1	-	11	2082	c.1449G>A	c.(1447-1449)ggG>ggA	p.G483G	TDRKH_ENST00000368827.6_Silent_p.G483G|TDRKH_ENST00000440583.2_Silent_p.G259G|TDRKH_ENST00000368825.3_Silent_p.G438G|TDRKH_ENST00000368823.1_Silent_p.G479G|TDRKH_ENST00000458431.2_Silent_p.G483G|TDRKH_ENST00000368824.3_Silent_p.G483G			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	483					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	mitochondrion (GO:0005739)|pi-body (GO:0071546)|piP-body (GO:0071547)	RNA binding (GO:0003723)	p.G483G(1)		breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTAATTCTAGCCCAATATCAA	0.393																																					p.G483G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1449A	1						.						127.0	111.0	116.0					1																	151747628		1864	4109	5973	150014252	SO:0001819	synonymous_variant	11022	exon11			AF227192	CCDS41394.1, CCDS41395.1	1q21	2013-01-23	2003-11-07		ENSG00000182134	ENSG00000182134		"""Tudor domain containing"""	11713	protein-coding gene	gene with protein product		609501	"""tudor and KH domain containing"""			10767542	Standard	NM_001083964		Approved	TDRD2	uc001eza.4	Q9Y2W6	OTTHUMG00000013062	ENST00000368822.1:c.1449G>A	1.37:g.151747628C>T			150014252	NM_001083965	D3DV24|Q5SZR3|Q5SZR5|Q8N582|Q9NYV5	Silent	SNP	ENST00000368822.1	37	CCDS41394.1																																																																																				0.393	TDRKH-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000036648.2	NM_006862	
FLG	2312	broad.mit.edu	37	1	152281450	152281450	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:152281450G>T	ENST00000368799.1	-	3	5947	c.5912C>A	c.(5911-5913)gCa>gAa	p.A1971E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1971	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.A1971E(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)			GGAGCTGTCTGCAGAGTGCCC	0.557									Ichthyosis																												p.A1971E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5912A	1						.						394.0	343.0	360.0					1																	152281450		2203	4300	6503	150548074	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.5912C>A	1.37:g.152281450G>T	ENSP00000357789:p.Ala1971Glu		150548074	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	g	9.400	1.077681	0.20227	.	.	ENSG00000143631	ENST00000368799	T	0.00892	5.57	2.39	-4.78	0.03209	.	.	.	.	.	T	0.00300	0.0009	M	0.70595	2.14	0.09310	N	1	B	0.17852	0.024	B	0.18263	0.021	T	0.49670	-0.8915	9	0.09590	T	0.72	.	0.7588	0.01003	0.3887:0.2317:0.225:0.1546	.	1971	P20930	FILA_HUMAN	E	1971	ENSP00000357789:A1971E	ENSP00000357789:A1971E	A	-	2	0	FLG	150548074	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-8.307000	0.00022	-1.589000	0.01625	0.461000	0.40582	GCA		0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
FLG	2312	broad.mit.edu	37	1	152282813	152282813	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:152282813A>G	ENST00000368799.1	-	3	4584	c.4549T>C	c.(4549-4551)Tac>Cac	p.Y1517H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1517	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.Y1517H(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)			CTGTGATGGTACCCTGAGTGT	0.562									Ichthyosis																												p.Y1517H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4549C	1						.						326.0	309.0	315.0					1																	152282813		2203	4300	6503	150549437	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.4549T>C	1.37:g.152282813A>G	ENSP00000357789:p.Tyr1517His		150549437	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	A	8.832	0.940256	0.18281	.	.	ENSG00000143631	ENST00000368799	T	0.04454	3.62	3.26	-0.727	0.11166	.	.	.	.	.	T	0.00637	0.0021	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45687	-0.9244	9	0.16420	T	0.52	.	6.025	0.19650	0.6118:0.0:0.3882:0.0	.	1517	P20930	FILA_HUMAN	H	1517	ENSP00000357789:Y1517H	ENSP00000357789:Y1517H	Y	-	1	0	FLG	150549437	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.316000	0.08071	-0.252000	0.09528	0.397000	0.26171	TAC		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
FLG	2312	broad.mit.edu	37	1	152283950	152283950	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:152283950T>C	ENST00000368799.1	-	3	3447	c.3412A>G	c.(3412-3414)Act>Gct	p.T1138A	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1138	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.T1138A(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)			CTTCGTCCAGTGCTGGTCCTG	0.602									Ichthyosis																												p.T1138A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3412G	1						.						159.0	195.0	183.0					1																	152283950		2203	4296	6499	150550574	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.3412A>G	1.37:g.152283950T>C	ENSP00000357789:p.Thr1138Ala		150550574	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	T	7.404	0.633398	0.14322	.	.	ENSG00000143631	ENST00000368799	T	0.00840	5.63	3.16	-4.34	0.03666	.	.	.	.	.	T	0.00384	0.0012	M	0.77616	2.38	0.09310	N	1	B	0.28324	0.207	B	0.23716	0.048	T	0.42275	-0.9461	9	0.13108	T	0.6	.	4.8497	0.13531	0.0:0.4504:0.1775:0.3721	.	1138	P20930	FILA_HUMAN	A	1138	ENSP00000357789:T1138A	ENSP00000357789:T1138A	T	-	1	0	FLG	150550574	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.347000	0.02632	-0.454000	0.07066	0.249000	0.18162	ACT		0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
LCE2B	26239	broad.mit.edu	37	1	152659418	152659418	+	Silent	SNP	G	G	A	rs550794184		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:152659418G>A	ENST00000368780.3	+	2	153	c.99G>A	c.(97-99)ctG>ctA	p.L33L	LCE2B_ENST00000417924.2_Silent_p.L33L	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	33	Cys-rich.|Pro-rich.				epidermis development (GO:0008544)|keratinization (GO:0031424)			p.L33L(1)		endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTAAATGCCTGCCCCAGTGCC	0.602													g|||	1	0.000199681	0.0	0.0	5008	,	,		14965	0.0		0.0	False		,,,				2504	0.001				p.L33L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G99A	1						.						137.0	138.0	138.0					1																	152659418		2203	4300	6503	150926042	SO:0001819	synonymous_variant	26239	exon2			BI670514	CCDS1020.1	1q21	2008-02-05	2004-10-11	2004-10-15	ENSG00000159455	ENSG00000159455		"""Late cornified envelopes"""	16610	protein-coding gene	gene with protein product		612610	"""small proline rich-like (epidermal differentiation complex) 1B"""	SPRL1B		11698679, 9344646	Standard	NM_014357		Approved	LEP10, XP5	uc001fai.3	O14633	OTTHUMG00000012404	ENST00000368780.3:c.99G>A	1.37:g.152659418G>A			150926042	NM_014357	Q5TA80	Silent	SNP	ENST00000368780.3	37	CCDS1020.1																																																																																				0.602	LCE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034524.1	NM_014357	
GON4L	54856	broad.mit.edu	37	1	155792174	155792174	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:155792174G>A	ENST00000368331.1	-	4	839	c.791C>T	c.(790-792)gCa>gTa	p.A264V	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Missense_Mutation_p.A264V|GON4L_ENST00000437809.1_Missense_Mutation_p.A264V|GON4L_ENST00000271883.5_Missense_Mutation_p.A264V	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	264					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.A264V(1)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CAGGTCATATGCCAAGGTCCC	0.448																																					p.A264V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C791T	1						.						407.0	311.0	344.0					1																	155792174		2203	4300	6503	154058798	SO:0001583	missense	54856	exon4			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.791C>T	1.37:g.155792174G>A	ENSP00000357315:p.Ala264Val		154058798	NM_032292	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37		.	.	.	.	.	.	.	.	.	.	G	4.167	0.029551	0.08054	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040	T;T;T;T	0.12569	2.86;2.86;2.86;2.67	5.4	1.26	0.21427	.	1.382700	0.04360	N	0.357348	T	0.02929	0.0087	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.12156	0.003;0.007;0.002;0.004	T	0.41179	-0.9523	10	0.25751	T	0.34	.	2.0712	0.03614	0.2121:0.2632:0.4018:0.1228	.	264;264;264;264	A4PB68;Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;.;GON4L_HUMAN;.	V	264	ENSP00000396117:A264V;ENSP00000357315:A264V;ENSP00000271883:A264V;ENSP00000354322:A264V	ENSP00000271883:A264V	A	-	2	0	GON4L	154058798	0.001000	0.12720	0.000000	0.03702	0.015000	0.08874	0.537000	0.23144	0.076000	0.16826	-0.311000	0.09066	GCA		0.448	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292	
ARHGEF2	9181	broad.mit.edu	37	1	155934863	155934863	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:155934863C>T	ENST00000361247.4	-	7	739	c.640G>A	c.(640-642)Gct>Act	p.A214T	ARHGEF2_ENST00000313667.4_Missense_Mutation_p.A213T|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.A186T|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.A259T|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.A186T|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.A215T	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	214					actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.A186T(1)		breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CAAGAGTCAGCTGCAAAGTCC	0.488																																					p.A214T	Melanoma(178;35 2768 6610 28839)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G640A	1						.						136.0	124.0	128.0					1																	155934863		2203	4300	6503	154201487	SO:0001583	missense	9181	exon7			AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.640G>A	1.37:g.155934863C>T	ENSP00000354837:p.Ala214Thr		154201487	NM_001162383	D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	ENST00000361247.4	37	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	C	34	5.389896	0.95988	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000435736;ENST00000543433;ENST00000313667	T;T;T;T;T	0.69926	-0.43;-0.31;-0.31;-0.43;-0.44	5.1	5.1	0.69264	.	0.000000	0.47852	D	0.000207	T	0.77363	0.4119	M	0.76727	2.345	0.54753	D	0.999982	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.80764	0.979;0.993;0.989;0.994	T	0.77070	-0.2724	10	0.46703	T	0.11	-18.2396	16.046	0.80722	0.0:1.0:0.0:0.0	.	259;258;214;213	B7Z977;D3DVA5;Q92974;Q92974-2	.;.;ARHG2_HUMAN;.	T	186;214;215;186;259;187;213	ENSP00000315325:A186T;ENSP00000354837:A214T;ENSP00000357298:A215T;ENSP00000357299:A186T;ENSP00000314787:A213T	ENSP00000314787:A213T	A	-	1	0	ARHGEF2	154201487	1.000000	0.71417	0.652000	0.29579	0.992000	0.81027	7.330000	0.79181	2.661000	0.90470	0.650000	0.86243	GCT		0.488	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723	
NES	10763	broad.mit.edu	37	1	156640507	156640507	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:156640507G>T	ENST00000368223.3	-	4	3605	c.3473C>A	c.(3472-3474)cCt>cAt	p.P1158H		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1158	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)	p.P1158H(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCTCTTCCCAGGCAGCTCGGA	0.627																																					p.P1158H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3473A	1						.						62.0	66.0	65.0					1																	156640507		2203	4300	6503	154907131	SO:0001583	missense	10763	exon4			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.3473C>A	1.37:g.156640507G>T	ENSP00000357206:p.Pro1158His		154907131	NM_006617	O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.646088	0.47258	.	.	ENSG00000132688	ENST00000368223	D	0.89270	-2.49	4.49	-1.65	0.08291	.	.	.	.	.	T	0.75568	0.3867	L	0.55481	1.735	0.09310	N	1	D	0.58620	0.983	B	0.43783	0.431	T	0.67910	-0.5548	9	0.87932	D	0	.	5.4058	0.16320	0.4017:0.2108:0.3876:0.0	.	1158	P48681	NEST_HUMAN	H	1158	ENSP00000357206:P1158H	ENSP00000357206:P1158H	P	-	2	0	NES	154907131	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.801000	0.27055	0.024000	0.15214	0.455000	0.32223	CCT		0.627	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617	
FCRL5	83416	broad.mit.edu	37	1	157514800	157514800	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:157514800G>T	ENST00000361835.3	-	4	537	c.380C>A	c.(379-381)gCg>gAg	p.A127E	FCRL5_ENST00000368189.3_Missense_Mutation_p.A127E|FCRL5_ENST00000368191.3_Missense_Mutation_p.A42E|FCRL5_ENST00000356953.4_Missense_Mutation_p.A127E|FCRL5_ENST00000368190.3_Missense_Mutation_p.A127E	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	127					negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.A127E(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TGTTACTTCCGCCTTTGCCCG	0.418																																					p.A127E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C380A	1						.						86.0	86.0	86.0					1																	157514800		2203	4300	6503	155781424	SO:0001583	missense	83416	exon4			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.380C>A	1.37:g.157514800G>T	ENSP00000354691:p.Ala127Glu		155781424	NM_031281	A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	A	0.068	-1.208566	0.01568	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.12569	2.67;2.67;2.67;2.67;2.67	4.48	-8.97	0.00758	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.01835	0.0058	N	0.17872	0.535	0.09310	N	1	B;B;P;P;P	0.40282	0.076;0.029;0.524;0.711;0.524	B;B;B;B;P	0.44422	0.028;0.028;0.325;0.296;0.449	T	0.13953	-1.0490	9	0.22706	T	0.39	.	1.9206	0.03306	0.2929:0.0744:0.2348:0.3979	.	42;127;127;127;127	F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;FCRL5_HUMAN	E	127;127;127;42;127	ENSP00000354691:A127E;ENSP00000349434:A127E;ENSP00000357173:A127E;ENSP00000357174:A42E;ENSP00000357172:A127E	ENSP00000349434:A127E	A	-	2	0	FCRL5	155781424	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.093000	0.01353	-3.120000	0.00239	-1.968000	0.00466	GCG		0.418	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281	
CD1E	913	broad.mit.edu	37	1	158326666	158326666	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:158326666C>T	ENST00000368167.3	+	6	1386	c.1147C>T	c.(1147-1149)Cgc>Tgc	p.R383C	CD1E_ENST00000368155.3_Missense_Mutation_p.R226C|CD1E_ENST00000444681.2_Missense_Mutation_p.R284C|CD1E_ENST00000368165.3_Missense_Mutation_p.R293C|CD1E_ENST00000452291.2_Missense_Mutation_p.R194C|CD1E_ENST00000368164.3_3'UTR|CD1E_ENST00000368160.3_Missense_Mutation_p.R371C|CD1E_ENST00000368154.1_Missense_Mutation_p.R139C|CD1E_ENST00000368166.3_Missense_Mutation_p.R182C|CD1E_ENST00000368163.3_Missense_Mutation_p.R316C|CD1E_ENST00000368157.1_Missense_Mutation_p.R127C|CD1E_ENST00000368161.3_3'UTR|CD1E_ENST00000368156.1_Missense_Mutation_p.R281C	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	383					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)	p.R383C(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GTGGAAGACACGCCTAAACCA	0.428																																					p.R293C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C877T	1						.						105.0	102.0	103.0					1																	158326666		1924	4136	6060	156593290	SO:0001583	missense	913	exon5			AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.1147C>T	1.37:g.158326666C>T	ENSP00000357149:p.Arg383Cys		156593290	NM_001185107	B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	ENST00000368167.3	37	CCDS41417.1	.	.	.	.	.	.	.	.	.	.	C	6.947	0.544615	0.13312	.	.	ENSG00000158488	ENST00000444681;ENST00000368167;ENST00000452291;ENST00000368165;ENST00000368166;ENST00000368163;ENST00000368157;ENST00000368160;ENST00000368156;ENST00000368155;ENST00000368154	T;T;T;T;T;T;T;T;T;T;T	0.50813	5.08;4.54;3.27;3.31;3.46;3.31;0.73;4.63;3.49;3.4;0.73	3.9	0.242	0.15498	.	0.808894	0.10732	N	0.640525	T	0.13200	0.0320	L	0.44542	1.39	0.09310	N	1	B;B;B;B;B;B;B;B;B;B	0.22276	0.006;0.004;0.006;0.008;0.025;0.002;0.01;0.001;0.067;0.006	B;B;B;B;B;B;B;B;B;B	0.17722	0.005;0.003;0.001;0.002;0.004;0.0;0.002;0.001;0.019;0.001	T	0.23154	-1.0196	10	0.30078	T	0.28	0.2428	1.1584	0.01800	0.5116:0.2037:0.1079:0.1768	.	284;293;226;182;371;383;194;139;281;316	E7EP01;P15812-5;P15812-7;P15812-9;P15812-2;P15812;P15812-8;P15812-11;P15812-6;P15812-4	.;.;.;.;.;CD1E_HUMAN;.;.;.;.	C	284;383;194;293;182;316;127;371;281;226;139	ENSP00000402906:R284C;ENSP00000357149:R383C;ENSP00000416228:R194C;ENSP00000357147:R293C;ENSP00000357148:R182C;ENSP00000357145:R316C;ENSP00000357139:R127C;ENSP00000357142:R371C;ENSP00000357138:R281C;ENSP00000357137:R226C;ENSP00000357136:R139C	ENSP00000357136:R139C	R	+	1	0	CD1E	156593290	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.971000	0.29396	0.023000	0.15187	-1.885000	0.00541	CGC		0.428	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893	
NCSTN	23385	broad.mit.edu	37	1	160327989	160327989	+	Silent	SNP	C	C	T	rs182566677		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:160327989C>T	ENST00000294785.5	+	17	2183	c.2058C>T	c.(2056-2058)gtC>gtT	p.V686V	NCSTN_ENST00000392212.4_Silent_p.V666V|NCSTN_ENST00000368065.4_Silent_p.V428V|NCSTN_ENST00000535857.1_Silent_p.V548V|NCSTN_ENST00000368063.1_Silent_p.V666V	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	686					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.V686V(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)			CCCTCATCGTCACCTACTGCA	0.552													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19331	0.0		0.0	False		,,,				2504	0.0				p.V686V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2058T	1						.						229.0	181.0	198.0					1																	160327989		2203	4300	6503	158594613	SO:0001819	synonymous_variant	23385	exon17			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.2058C>T	1.37:g.160327989C>T			158594613	NM_015331	Q5T207|Q5T208|Q86VV5	Silent	SNP	ENST00000294785.5	37	CCDS1203.1																																																																																				0.552	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080622.1	NM_015331	
GNB1	2782	broad.mit.edu	37	1	1718847	1718847	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:1718847T>C	ENST00000378609.4	-	11	1277	c.946A>G	c.(946-948)Agc>Ggc	p.S316G		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	316					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)	p.S316G(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		CCCAGGCAGCTGACGCGGTTG	0.567																																					p.S316G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A946G	1						.						96.0	84.0	88.0					1																	1718847		2203	4300	6503	1708707	SO:0001583	missense	2782	exon11			BC004186	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			ENSG00000078369	ENSG00000078369		"""WD repeat domain containing"""	4396	protein-coding gene	gene with protein product		139380					Standard	NM_002074		Approved		uc001aif.3	P62873	OTTHUMG00000000940	ENST00000378609.4:c.946A>G	1.37:g.1718847T>C	ENSP00000367872:p.Ser316Gly		1708707	NM_002074	B1AJZ7|P04697|P04901|Q1RMY8	Missense_Mutation	SNP	ENST00000378609.4	37	CCDS34.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.841724	0.91197	.	.	ENSG00000078369	ENST00000378609;ENST00000455156;ENST00000378606	T	0.61627	0.09	5.74	5.74	0.90152	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	T	0.76779	0.4035	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.78643	-0.2124	10	0.49607	T	0.09	-9.2621	15.2176	0.73281	0.0:0.0:0.0:1.0	.	316	P62873	GBB1_HUMAN	G	316;216;316	ENSP00000367872:S316G	ENSP00000367869:S316G	S	-	1	0	GNB1	1708707	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.927000	0.70080	2.196000	0.70406	0.459000	0.35465	AGC		0.567	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002762.3	NM_002074	
LRRC52	440699	broad.mit.edu	37	1	165513745	165513745	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:165513745T>C	ENST00000294818.1	+	1	502	c.212T>C	c.(211-213)aTg>aCg	p.M71T	RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	71					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.M71T(1)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					TTGCCAGCAATGCATCTAGGA	0.483																																					p.M71T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T212C	1						.						167.0	164.0	165.0					1																	165513745		2203	4300	6503	163780369	SO:0001583	missense	440699	exon1			AK098677	CCDS30930.1	1q23.3	2008-02-05			ENSG00000162763	ENSG00000162763			32156	protein-coding gene	gene with protein product		615218					Standard	NM_001005214		Approved	FLJ25811	uc001gde.2	Q8N7C0	OTTHUMG00000034625	ENST00000294818.1:c.212T>C	1.37:g.165513745T>C	ENSP00000294818:p.Met71Thr		163780369	NM_001005214	A2RUN7|Q5T9K5	Missense_Mutation	SNP	ENST00000294818.1	37	CCDS30930.1	.	.	.	.	.	.	.	.	.	.	T	5.968	0.362594	0.11296	.	.	ENSG00000162763	ENST00000294818	T	0.02216	4.39	5.68	5.68	0.88126	.	0.491570	0.23979	N	0.042691	T	0.00524	0.0017	N	0.16368	0.405	0.26865	N	0.967872	B	0.06786	0.001	B	0.04013	0.001	T	0.44436	-0.9328	9	0.06236	T	0.91	.	9.2279	0.37418	0.1613:0.0:0.0:0.8387	.	71	Q8N7C0	LRC52_HUMAN	T	71	ENSP00000294818:M71T	ENSP00000294818:M71T	M	+	2	0	LRRC52	163780369	1.000000	0.71417	0.442000	0.26870	0.996000	0.88848	5.546000	0.67243	2.163000	0.67991	0.460000	0.39030	ATG		0.483	LRRC52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083793.1	NM_001005214	
SLC9C2	284525	broad.mit.edu	37	1	173503760	173503760	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:173503760C>A	ENST00000367714.3	-	16	2259	c.1837G>T	c.(1837-1839)Gga>Tga	p.G613*	SLC9C2_ENST00000536496.1_Intron|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	613					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)	p.G613*(1)									ATAATCTGTCCTGTATATTCA	0.269																																					p.G613X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1837T	1						.						17.0	20.0	19.0					1																	173503760		2120	4142	6262	171770383	SO:0001587	stop_gained	284525	exon16			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1837G>T	1.37:g.173503760C>A	ENSP00000356687:p.Gly613*		171770383	NM_178527	Q86UF3	Nonsense_Mutation	SNP	ENST00000367714.3	37	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	C	38	7.009065	0.97998	.	.	ENSG00000162753	ENST00000367714	.	.	.	5.65	4.48	0.54585	.	0.534720	0.16794	N	0.199258	.	.	.	.	.	.	0.48830	D	0.99971	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-6.265	8.3898	0.32522	0.0:0.8605:0.0:0.1395	.	.	.	.	X	613	.	ENSP00000356687:G613X	G	-	1	0	SLC9A11	171770383	0.068000	0.21057	0.330000	0.25442	0.224000	0.24922	1.077000	0.30741	1.031000	0.39867	0.609000	0.83330	GGA		0.269	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527	
ANKRD45	339416	broad.mit.edu	37	1	173628274	173628274	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:173628274G>T	ENST00000333279.2	-	2	344	c.284C>A	c.(283-285)gCt>gAt	p.A95D	snoU13_ENST00000459202.1_RNA	NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	111								p.A95D(1)		NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						TTTTGCCAAAGCTCTAATCAC	0.398																																					p.A95D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C284A	1						.						115.0	113.0	114.0					1																	173628274		2203	4300	6503	171894897	SO:0001583	missense	339416	exon2				CCDS1309.1	1q25.1	2013-01-10			ENSG00000183831	ENSG00000183831		"""Ankyrin repeat domain containing"""	24786	protein-coding gene	gene with protein product	"""cancer/testis antigen 117"""						Standard	NM_198493		Approved	FLJ45235, CT117	uc001gja.1	Q5TZF3	OTTHUMG00000040546	ENST00000333279.2:c.284C>A	1.37:g.173628274G>T	ENSP00000331268:p.Ala95Asp		171894897	NM_198493	A1A4G2|Q6ZST1	Missense_Mutation	SNP	ENST00000333279.2	37	CCDS1309.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.156405	0.38119	.	.	ENSG00000183831	ENST00000333279	T	0.66099	-0.19	5.22	4.31	0.51392	Ankyrin repeat-containing domain (4);	0.193284	0.41712	D	0.000821	T	0.29817	0.0745	L	0.38175	1.15	0.30320	N	0.787657	P;B	0.43352	0.804;0.166	B;B	0.37601	0.254;0.038	T	0.11084	-1.0602	10	0.36615	T	0.2	-3.3497	8.2461	0.31689	0.0805:0.0:0.7641:0.1554	.	95;111	Q5TZF3-2;Q5TZF3	.;ANR45_HUMAN	D	95	ENSP00000331268:A95D	ENSP00000331268:A95D	A	-	2	0	ANKRD45	171894897	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	2.536000	0.45693	1.572000	0.49736	0.650000	0.86243	GCT		0.398	ANKRD45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097580.2	NM_198493	
RFWD2	64326	broad.mit.edu	37	1	176054932	176054932	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:176054932G>A	ENST00000367669.3	-	10	1635	c.1121C>T	c.(1120-1122)aCa>aTa	p.T374I	RFWD2_ENST00000308769.8_Missense_Mutation_p.T350I	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	374					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)	p.T374I(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						AGACATCCTTGTAGAAAAGTA	0.348																																					p.T374I	Ovarian(134;1413 1765 5706 35534 51541)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1121T	1						.						105.0	96.0	99.0					1																	176054932		2203	4300	6503	174321555	SO:0001583	missense	64326	exon10			AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	17440	protein-coding gene	gene with protein product		608067	"""ring finger and WD repeat domain 2"""			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.1121C>T	1.37:g.176054932G>A	ENSP00000356641:p.Thr374Ile		174321555	NM_022457	E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Missense_Mutation	SNP	ENST00000367669.3	37	CCDS30944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.55|13.55	2.269858|2.269858	0.40095|0.40095	.|.	.|.	ENSG00000143207|ENSG00000143207	ENST00000459744|ENST00000367665;ENST00000367669;ENST00000367666;ENST00000308769	.|T;T;T	.|0.12465	.|2.68;2.68;2.68	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	.|0.103336	.|0.64402	.|D	.|0.000003	.|T	.|0.06781	.|0.0173	N|N	0.02539|0.02539	-0.55|-0.55	0.44754|0.44754	D|D	0.997754|0.997754	.|B;B;B;P;B	.|0.44578	.|0.003;0.165;0.002;0.838;0.165	.|B;B;B;B;B	.|0.38655	.|0.008;0.069;0.005;0.278;0.051	.|T	.|0.46992	.|-0.9151	.|10	.|0.33940	.|T	.|0.23	-9.6619|-9.6619	18.0356|18.0356	0.89301|0.89301	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|149;134;350;374;374	.|Q8NHY2-3;B1AMD2;Q8NHY2-2;Q8NHY2;Q504W6	.|.;.;.;RFWD2_HUMAN;.	X|I	94|149;374;209;350	.|ENSP00000356641:T374I;ENSP00000356638:T209I;ENSP00000310943:T350I	.|ENSP00000310943:T350I	Q|T	-|-	1|2	0|0	RFWD2|RFWD2	174321555|174321555	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	4.340000|4.340000	0.59328|0.59328	2.631000|2.631000	0.89168|0.89168	0.467000|0.467000	0.42956|0.42956	CAA|ACA		0.348	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457	
ARPC5	10092	broad.mit.edu	37	1	183599739	183599739	+	Missense_Mutation	SNP	T	T	C	rs150967276		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:183599739T>C	ENST00000359856.6	-	3	316	c.250A>G	c.(250-252)Atc>Gtc	p.I84V	ARPC5_ENST00000367534.1_Missense_Mutation_p.I84V|ARPC5_ENST00000462965.1_5'UTR|ARPC5_ENST00000294742.6_Missense_Mutation_p.I87V	NM_005717.3	NP_005708.1	O15511	ARPC5_HUMAN	actin related protein 2/3 complex, subunit 5, 16kDa	84					actin cytoskeleton organization (GO:0030036)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	structural constituent of cytoskeleton (GO:0005200)	p.I84V(1)		cervix(1)|large_intestine(1)|lung(2)	4						TTAAAAGAGATGAGCACCTTC	0.388																																					p.I84V	Melanoma(136;1596 1789 3041 4830 41075)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A250G	1						.						76.0	79.0	78.0					1																	183599739		2203	4300	6503	181866362	SO:0001583	missense	10092	exon3			AF017807	CCDS1357.1, CCDS58050.1	1q	2011-07-06	2002-08-29		ENSG00000162704	ENSG00000162704		"""Actin related protein 2/3 complex subunits"""	708	protein-coding gene	gene with protein product	"""Arp2/3 protein complex subunit p16"""	604227	"""actin related protein 2/3 complex, subunit 5 (16 kD)"""			9359840, 9230079	Standard	NM_005717		Approved	p16-Arc, ARC16, dJ127C7.3	uc021pgb.2	O15511	OTTHUMG00000035326	ENST00000359856.6:c.250A>G	1.37:g.183599739T>C	ENSP00000352918:p.Ile84Val		181866362	NM_005717	A6NEC4|Q6PG42	Missense_Mutation	SNP	ENST00000359856.6	37	CCDS1357.1	.	.	.	.	.	.	.	.	.	.	T	17.44	3.391124	0.62066	.	.	ENSG00000162704	ENST00000367534;ENST00000359856;ENST00000294742	.	.	.	5.75	5.75	0.90469	.	0.093292	0.64402	D	0.000001	T	0.38904	0.1058	N	0.11427	0.14	0.37859	D	0.929658	B	0.09022	0.002	B	0.14578	0.011	T	0.35674	-0.9779	9	0.15499	T	0.54	-19.7409	16.1098	0.81255	0.0:0.0:0.0:1.0	.	84	O15511	ARPC5_HUMAN	V	84;84;87	.	ENSP00000294742:I87V	I	-	1	0	ARPC5	181866362	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.930000	0.87610	2.203000	0.70933	0.529000	0.55759	ATC		0.388	ARPC5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000085477.1	NM_005717	
HMCN1	83872	broad.mit.edu	37	1	186122926	186122926	+	Silent	SNP	C	C	T	rs114051074	byFrequency	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:186122926C>T	ENST00000271588.4	+	97	15292	c.15063C>T	c.(15061-15063)taC>taT	p.Y5021Y	HMCN1_ENST00000367492.2_Silent_p.Y5021Y	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5021	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.Y5021Y(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGCAGCTGTACGCCTACTCAA	0.453													c|||	20	0.00399361	0.0151	0.0	5008	,	,		18912	0.0		0.0	False		,,,				2504	0.0				p.Y5021Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C15063T	1						.	T		71,4335	64.1+/-101.4	0,71,2132	117.0	106.0	110.0		15063	-6.2	0.7	1	dbSNP_132	110	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	HMCN1	NM_031935.2		0,72,6431	TT,TC,CC		0.0116,1.6114,0.5536		5021/5636	186122926	72,12934	2203	4300	6503	184389549	SO:0001819	synonymous_variant	83872	exon97			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.15063C>T	1.37:g.186122926C>T			184389549	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	CCDS30956.1																																																																																				0.453	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
CFAP74	85452	broad.mit.edu	37	1	1903447	1903447	+	IGR	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:1903447G>A								TMEM52 (52735 upstream) : C1orf222 (16115 downstream)														p.A287V(1)									GCCCTTCAGCGCCACCACCGC	0.627																																					p.A287V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C860T	1						.						88.0	97.0	94.0					1																	1903447		2147	4242	6389	1893307	SO:0001628	intergenic_variant	85452	exon9																															1.37:g.1903447G>A			1893307	NM_001080484		Missense_Mutation	SNP		37		.	.	.	.	.	.	.	.	.	.	g	12.96	2.095516	0.36952	.	.	ENSG00000142609	ENST00000270720	.	.	.	2.78	1.83	0.25207	.	0.400936	0.22825	N	0.055164	T	0.65933	0.2739	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.66716	0.946;0.871	T	0.62478	-0.6846	9	0.38643	T	0.18	-13.5137	8.9893	0.36014	0.0:0.0:0.7774:0.2226	.	287;287	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	V	287	.	ENSP00000270720:A287V	A	-	2	0	C1orf222	1893307	0.811000	0.29063	0.924000	0.36721	0.013000	0.08279	2.988000	0.49386	0.700000	0.31782	0.457000	0.33378	GCG	0	0.627								
HMCN1	83872	broad.mit.edu	37	1	186147607	186147607	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:186147607G>A	ENST00000271588.4	+	104	16232	c.16003G>A	c.(16003-16005)Ggc>Agc	p.G5335S	GS1-174L6.4_ENST00000428391.1_RNA|HMCN1_ENST00000367492.2_Intron	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5335	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.G5335S(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAACACCCCCGGCAGCTTCAA	0.443																																					p.G5335S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G16003A	1						.						99.0	102.0	101.0					1																	186147607		2203	4300	6503	184414230	SO:0001583	missense	83872	exon104			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.16003G>A	1.37:g.186147607G>A	ENSP00000271588:p.Gly5335Ser		184414230	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.667666	0.88348	.	.	ENSG00000143341	ENST00000271588	D	0.99552	-6.15	5.77	5.77	0.91146	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99775	0.9907	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97558	1.0096	10	0.72032	D	0.01	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	5335	Q96RW7	HMCN1_HUMAN	S	5335	ENSP00000271588:G5335S	ENSP00000271588:G5335S	G	+	1	0	HMCN1	184414230	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.751000	0.98889	2.885000	0.99019	0.655000	0.94253	GGC		0.443	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
ZBTB41	360023	broad.mit.edu	37	1	197157490	197157490	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:197157490C>T	ENST00000367405.4	-	4	1546	c.1478G>A	c.(1477-1479)tGt>tAt	p.C493Y	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	493					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C493Y(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						ACAATAGGTACACTTAAAAGG	0.328																																					p.C493Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1478A	1						.						77.0	77.0	77.0					1																	197157490		2202	4300	6502	195424113	SO:0001583	missense	360023	exon4				CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.1478G>A	1.37:g.197157490C>T	ENSP00000356375:p.Cys493Tyr		195424113	NM_194314	A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Missense_Mutation	SNP	ENST00000367405.4	37	CCDS30960.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.750557	0.89753	.	.	ENSG00000177888	ENST00000367405	T	0.58358	0.34	5.48	5.48	0.80851	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45606	U	0.000352	T	0.81380	0.4810	H	0.94503	3.545	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	D	0.86170	0.1599	10	0.87932	D	0	.	19.717	0.96124	0.0:1.0:0.0:0.0	.	493	Q5SVQ8	ZBT41_HUMAN	Y	493	ENSP00000356375:C493Y	ENSP00000356375:C493Y	C	-	2	0	ZBTB41	195424113	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.391000	0.79828	2.734000	0.93682	0.563000	0.77884	TGT		0.328	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	NM_194314	
PTPRC	5788	broad.mit.edu	37	1	198700764	198700764	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:198700764T>C	ENST00000367376.2	+	18	2048	c.1877T>C	c.(1876-1878)aTg>aCg	p.M626T	PTPRC_ENST00000352140.3_Missense_Mutation_p.M578T|PTPRC_ENST00000442510.2_Missense_Mutation_p.M628T|PTPRC_ENST00000348564.6_Missense_Mutation_p.M467T|PTPRC_ENST00000594404.1_Missense_Mutation_p.M465T	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	626					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.M626T(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						AAACAACTGATGAATGTGGAG	0.353																																					p.M465T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1394C	1						.						130.0	127.0	128.0					1																	198700764		2203	4300	6503	196967387	SO:0001583	missense	5788	exon15			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.1877T>C	1.37:g.198700764T>C	ENSP00000356346:p.Met626Thr		196967387	NM_080921	A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37		.	.	.	.	.	.	.	.	.	.	T	14.65	2.599248	0.46318	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	T	0.02498	4.27	5.59	5.59	0.84812	.	0.100524	0.44097	D	0.000486	T	0.07548	0.0190	M	0.72118	2.19	0.36980	D	0.894252	B;B;B;B;B	0.31485	0.259;0.196;0.177;0.325;0.325	B;B;B;B;B	0.37144	0.242;0.182;0.118;0.118;0.118	T	0.04961	-1.0915	10	0.66056	D	0.02	.	15.7695	0.78157	0.0:0.0:0.0:1.0	.	562;562;467;578;626	F5GXZ3;B4DSZ5;B1ALS3;E9PC28;P08575	.;.;.;.;PTPRC_HUMAN	T	628;562;578;578;512;626;560;465	ENSP00000193532:M578T	ENSP00000306782:M465T	M	+	2	0	PTPRC	196967387	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	5.769000	0.68865	2.107000	0.64212	0.528000	0.53228	ATG		0.353	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			
KIF21B	23046	broad.mit.edu	37	1	200977992	200977992	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:200977992C>T	ENST00000422435.2	-	3	668	c.352G>A	c.(352-354)Gca>Aca	p.A118T	KIF21B_ENST00000461742.2_Missense_Mutation_p.A118T|KIF21B_ENST00000360529.5_Missense_Mutation_p.A118T|KIF21B_ENST00000332129.2_Missense_Mutation_p.A118T	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	118	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A118T(2)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						AAGAGGTGTGCGATGGCCCTC	0.627																																					p.A118T												.	.	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)	c.G352A	1						.						100.0	92.0	95.0					1																	200977992		2203	4300	6503	199244615	SO:0001583	missense	23046	exon3			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.352G>A	1.37:g.200977992C>T	ENSP00000411831:p.Ala118Thr		199244615	NM_017596	B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.747799	0.30955	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9	5.57	2.68	0.31781	Kinesin, motor domain (4);	0.257714	0.38663	N	0.001609	T	0.43523	0.1251	N	0.04655	-0.195	0.09310	N	1	B;B;B;B	0.23990	0.095;0.095;0.004;0.077	B;B;B;B	0.16289	0.015;0.015;0.003;0.009	T	0.17837	-1.0356	10	0.26408	T	0.33	.	2.0444	0.03557	0.2446:0.4551:0.119:0.1813	.	118;118;118;118	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	T	118	ENSP00000328494:A118T;ENSP00000353724:A118T;ENSP00000433808:A118T;ENSP00000411831:A118T	ENSP00000328494:A118T	A	-	1	0	KIF21B	199244615	0.002000	0.14202	0.654000	0.29608	0.960000	0.62799	0.884000	0.28214	0.305000	0.22832	-0.175000	0.13238	GCA		0.627	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332	
CHIT1	1118	broad.mit.edu	37	1	203192655	203192655	+	Missense_Mutation	SNP	C	C	T	rs557542364		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:203192655C>T	ENST00000367229.1	-	5	482	c.448G>A	c.(448-450)Gta>Ata	p.V150I	CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Missense_Mutation_p.V131I|CHIT1_ENST00000535569.1_Missense_Mutation_p.V141I	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	150					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)	p.V150I(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TCCTTGTCTACGGCAGGGCTC	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		18678	0.001		0.0	False		,,,				2504	0.0				p.V150I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G448A	1						.						81.0	82.0	81.0					1																	203192655		2203	4300	6503	201459278	SO:0001583	missense	1118	exon5			U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.448G>A	1.37:g.203192655C>T	ENSP00000356198:p.Val150Ile		201459278	NM_003465	B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Missense_Mutation	SNP	ENST00000367229.1	37	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303175	0.40795	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	T;T;T	0.05855	3.38;3.38;3.38	4.83	-8.18	0.01053	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	1.843750	0.02849	N	0.128910	T	0.03959	0.0111	N	0.17764	0.52	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.43032	-0.9416	10	0.51188	T	0.08	-2.2605	5.6884	0.17815	0.1121:0.5451:0.084:0.2588	.	141;150	G5EA51;Q13231	.;CHIT1_HUMAN	I	150;131;141	ENSP00000356198:V150I;ENSP00000255427:V131I;ENSP00000438078:V141I	ENSP00000255427:V131I	V	-	1	0	CHIT1	201459278	0.000000	0.05858	0.000000	0.03702	0.204000	0.24138	-0.294000	0.08309	-0.979000	0.03529	-1.170000	0.01741	GTA		0.602	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465	
NENF	29937	broad.mit.edu	37	1	212615936	212615936	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:212615936G>T	ENST00000366988.3	+	2	264	c.207G>T	c.(205-207)aaG>aaT	p.K69N	NENF_ENST00000473900.1_3'UTR	NM_013349.4	NP_037481.1	Q9UMX5	NENF_HUMAN	neudesin neurotrophic factor	69	Cytochrome b5 heme-binding.				positive regulation of MAPK cascade (GO:0043410)	extracellular space (GO:0005615)	heme binding (GO:0020037)|metal ion binding (GO:0046872)	p.K69N(1)		endometrium(1)|kidney(1)|large_intestine(2)	4				all cancers(67;0.00967)|OV - Ovarian serous cystadenocarcinoma(81;0.0108)|GBM - Glioblastoma multiforme(131;0.0325)|Epithelial(68;0.132)		TGGCAGTGAAGGGAGTGGTGT	0.498																																					p.K69N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G207T	1						.						203.0	168.0	180.0					1																	212615936		2203	4300	6503	210682559	SO:0001583	missense	29937	exon2				CCDS1505.1	1q32.3	2011-07-05	2011-07-05		ENSG00000117691	ENSG00000117691			30384	protein-coding gene	gene with protein product	"""neudesin"""	611874	"""neuron derived neurotrophic factor"""			9771976, 15605373	Standard	NM_013349		Approved	CIR2, SCIRP10, SPUF	uc001hjd.3	Q9UMX5	OTTHUMG00000036744	ENST00000366988.3:c.207G>T	1.37:g.212615936G>T	ENSP00000355955:p.Lys69Asn		210682559	NM_013349	A1KYQ8|Q53FZ6|Q5TM90	Missense_Mutation	SNP	ENST00000366988.3	37	CCDS1505.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.922952	0.73213	.	.	ENSG00000117691	ENST00000366988	T	0.79653	-1.29	5.91	1.38	0.22167	Cytochrome b5 (3);	0.000000	0.85682	D	0.000000	D	0.82866	0.5130	L	0.46741	1.465	0.58432	D	0.999994	D	0.89917	1.0	D	0.77557	0.99	T	0.78117	-0.2329	10	0.31617	T	0.26	-6.5978	9.4562	0.38756	0.4276:0.0:0.5724:0.0	.	69	Q9UMX5	NENF_HUMAN	N	69	ENSP00000355955:K69N	ENSP00000355955:K69N	K	+	3	2	NENF	210682559	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	0.914000	0.28624	0.374000	0.24650	0.655000	0.94253	AAG		0.498	NENF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089291.1	NM_013349	
CENPF	1063	broad.mit.edu	37	1	214818390	214818390	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:214818390T>C	ENST00000366955.3	+	13	5645	c.5477T>C	c.(5476-5478)aTa>aCa	p.I1826T		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1922					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.I1826T(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GAAGCATGCATAGAATTGGAA	0.328																																					p.I1826T	Colon(80;575 1284 11000 14801 43496)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T5477C	1						.						32.0	34.0	33.0					1																	214818390		2194	4298	6492	212885013	SO:0001583	missense	1063	exon13			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.5477T>C	1.37:g.214818390T>C	ENSP00000355922:p.Ile1826Thr		212885013	NM_016343	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	T	0.388	-0.925194	0.02377	.	.	ENSG00000117724	ENST00000366955	T	0.02974	4.09	5.38	-1.51	0.08664	.	1.225550	0.06219	N	0.686469	T	0.02193	0.0068	L	0.27053	0.805	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.49163	-0.8968	10	0.14252	T	0.57	.	5.8098	0.18460	0.0:0.4097:0.2749:0.3154	.	1922	P49454	CENPF_HUMAN	T	1826	ENSP00000355922:I1826T	ENSP00000355922:I1826T	I	+	2	0	CENPF	212885013	0.000000	0.05858	0.001000	0.08648	0.028000	0.11728	0.195000	0.17155	0.038000	0.15604	0.496000	0.49642	ATA		0.328	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343	
USH2A	7399	broad.mit.edu	37	1	216496917	216496917	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:216496917C>T	ENST00000307340.3	-	8	1835	c.1449G>A	c.(1447-1449)acG>acA	p.T483T	USH2A_ENST00000366943.2_Silent_p.T483T|USH2A_ENST00000366942.3_Silent_p.T483T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	483	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				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.T483T(2)		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)		ACCTTATTTGCGTGGCTTTTA	0.408										HNSCC(13;0.011)																											p.T483T												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.G1449A	1						.						156.0	156.0	156.0					1																	216496917		2203	4300	6503	214563540	SO:0001819	synonymous_variant	7399	exon8			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.1449G>A	1.37:g.216496917C>T			214563540	NM_206933	Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	CCDS31025.1																																																																																				0.408	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
WDR26	80232	broad.mit.edu	37	1	224612238	224612238	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:224612238C>T	ENST00000414423.2	-	4	939	c.746G>A	c.(745-747)cGc>cAc	p.R249H	WDR26_ENST00000295024.6_Missense_Mutation_p.R102H|WDR26_ENST00000366852.2_3'UTR	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	249						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R249H(1)|p.R102H(1)		biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		AACATGAATGCGCTCTGTATT	0.413																																					p.R249H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G746A	1						.						107.0	97.0	100.0					1																	224612238		2203	4300	6503	222678861	SO:0001583	missense	80232	exon4			AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"""WD repeat domain containing"""	21208	protein-coding gene	gene with protein product	"""GID complex subunit 7 homolog (S. cerevisiae)"""						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.746G>A	1.37:g.224612238C>T	ENSP00000408108:p.Arg249His		222678861	NM_025160	A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Missense_Mutation	SNP	ENST00000414423.2	37	CCDS31037.2	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582841	0.86748	.	.	ENSG00000162923	ENST00000414423;ENST00000295024;ENST00000445239	T;T	0.71103	-0.54;-0.27	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.78824	0.4344	M	0.82132	2.575	0.80722	D	1	P;D	0.58268	0.946;0.982	B;P	0.46850	0.246;0.529	T	0.81136	-0.1070	10	0.56958	D	0.05	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	249;233	Q9H7D7;Q9H7D7-2	WDR26_HUMAN;.	H	249;102;102	ENSP00000408108:R249H;ENSP00000295024:R102H	ENSP00000295024:R102H	R	-	2	0	WDR26	222678861	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.814000	0.96858	0.655000	0.94253	CGC		0.413	WDR26-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091760.2	NM_025160	
PSEN2	5664	broad.mit.edu	37	1	227077817	227077817	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:227077817C>A	ENST00000366783.3	+	9	1305	c.869C>A	c.(868-870)cCt>cAt	p.P290H	PSEN2_ENST00000366782.1_Missense_Mutation_p.P323H|PSEN2_ENST00000391872.2_Missense_Mutation_p.P323H|PSEN2_ENST00000340188.4_Intron|PSEN2_ENST00000422240.2_Missense_Mutation_p.P290H|PSEN2_ENST00000472139.2_Missense_Mutation_p.P146H	NM_000447.2|NM_012486.2	NP_000438.2|NP_036618.2	P49810	PSN2_HUMAN	presenilin 2	290					amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|brain morphogenesis (GO:0048854)|calcium ion transport (GO:0006816)|cardiac muscle contraction (GO:0060048)|cell fate specification (GO:0001708)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|forebrain development (GO:0030900)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|locomotion (GO:0040011)|lung alveolus development (GO:0048286)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|memory (GO:0007613)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of protein phosphorylation (GO:0001933)|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)|positive regulation of coagulation (GO:0050820)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of synaptic plasticity (GO:0048167)|response to hypoxia (GO:0001666)|somitogenesis (GO:0001756)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear inner membrane (GO:0005637)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)	p.P290H(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				CCCATATTCCCTGCCCTGATA	0.597																																					p.P290H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C869A	1						.						139.0	119.0	126.0					1																	227077817		2203	4300	6503	225144440	SO:0001583	missense	5664	exon9			BC006365	CCDS1556.1, CCDS44324.1	1q42.13	2014-09-17	2014-02-24		ENSG00000143801	ENSG00000143801			9509	protein-coding gene	gene with protein product		600759	"""Alzheimer disease 4"""	AD4		7638621	Standard	NM_000447		Approved	AD3L, STM2, PS2	uc009xeo.1	P49810	OTTHUMG00000037563	ENST00000366783.3:c.869C>A	1.37:g.227077817C>A	ENSP00000355747:p.Pro290His		225144440	NM_000447	A8K8D4|B1AP21|Q96P32	Missense_Mutation	SNP	ENST00000366783.3	37	CCDS1556.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.666097	0.88251	.	.	ENSG00000143801	ENST00000366783;ENST00000422240;ENST00000460775;ENST00000366782;ENST00000391872;ENST00000472139	D;D;D;D;D;D	0.99691	-6.42;-6.42;-6.42;-6.42;-6.42;-6.42	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	H	0.95187	3.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96798	0.9587	10	0.87932	D	0	.	18.554	0.91077	0.0:1.0:0.0:0.0	.	290;290	A8K8D4;P49810	.;PSN2_HUMAN	H	290;290;117;323;323;146	ENSP00000355747:P290H;ENSP00000403737:P290H;ENSP00000427912:P117H;ENSP00000355746:P323H;ENSP00000375745:P323H;ENSP00000427806:P146H	ENSP00000355746:P323H	P	+	2	0	PSEN2	225144440	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.685000	0.84117	2.460000	0.83146	0.563000	0.77884	CCT		0.597	PSEN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091539.1	NM_000447	
PCNXL2	80003	broad.mit.edu	37	1	233190016	233190016	+	Missense_Mutation	SNP	C	C	T	rs200221183		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:233190016C>T	ENST00000258229.9	-	25	4583	c.4349G>A	c.(4348-4350)cGa>cAa	p.R1450Q	PCNXL2_ENST00000344698.2_Missense_Mutation_p.R102Q	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1450						integral component of membrane (GO:0016021)		p.R1450Q(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ATTCTTACCTCGGAATTCCAG	0.368													C|||	1	0.000199681	0.0	0.0	5008	,	,		19727	0.0		0.001	False		,,,				2504	0.0				p.R1450Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4349A	1						.	C	GLN/ARG	1,3685		0,1,1842	58.0	55.0	56.0		4349	4.2	1.0	1		56	11,8161		1,9,4076	yes	missense	PCNXL2	NM_014801.3	43	1,10,5918	TT,TC,CC		0.1346,0.0271,0.1012	probably-damaging	1450/2138	233190016	12,11846	1843	4086	5929	231256639	SO:0001583	missense	80003	exon25			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.4349G>A	1.37:g.233190016C>T	ENSP00000258229:p.Arg1450Gln		231256639	NM_014801	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	CCDS44335.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	27.1	4.802480	0.90538	2.71E-4	0.001346	ENSG00000135749	ENST00000344698;ENST00000258229	T;T	0.24908	1.83;2.92	5.12	4.21	0.49690	.	0.113922	0.64402	D	0.000015	T	0.52549	0.1741	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	T	0.59841	-0.7378	10	0.87932	D	0	.	13.8337	0.63398	0.0:0.9258:0.0:0.0742	.	1450;102	A6NKB5;A6NKB5-3	PCX2_HUMAN;.	Q	102;1450	ENSP00000340759:R102Q;ENSP00000258229:R1450Q	ENSP00000258229:R1450Q	R	-	2	0	PCNXL2	231256639	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	4.653000	0.61462	1.302000	0.44855	0.655000	0.94253	CGA		0.368	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801	
KIAA1804	84451	broad.mit.edu	37	1	233489657	233489657	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:233489657C>T	ENST00000366624.3	+	3	1352	c.1091C>T	c.(1090-1092)cCc>cTc	p.P364L	MLK4_ENST00000366623.3_Missense_Mutation_p.P364L	NM_032435.2	NP_115811.2												p.P364L(1)									CTCACTTTGCCCATTCCATCC	0.517																																					p.P364L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1091T	1						.						143.0	124.0	131.0					1																	233489657		2203	4300	6503	231556280	SO:0001583	missense	84451	exon3																														ENST00000366624.3:c.1091C>T	1.37:g.233489657C>T	ENSP00000355583:p.Pro364Leu		231556280	NM_032435		Missense_Mutation	SNP	ENST00000366624.3	37	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.862495	0.91511	.	.	ENSG00000143674	ENST00000366623;ENST00000366624	D;D	0.83075	-1.68;-1.68	4.91	4.91	0.64330	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	0.90188	0.6933	M	0.66378	2.025	0.80722	D	1	D;D	0.60160	0.987;0.969	D;P	0.72075	0.976;0.891	D	0.90941	0.4797	10	0.66056	D	0.02	.	18.301	0.90163	0.0:1.0:0.0:0.0	.	364;364	Q5TCX8;Q5TCX8-2	M3KL4_HUMAN;.	L	364	ENSP00000355582:P364L;ENSP00000355583:P364L	ENSP00000355582:P364L	P	+	2	0	RP5-862P8.2	231556280	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.645000	0.83430	2.538000	0.85594	0.563000	0.77884	CCC		0.517	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1		
KCNK1	3775	broad.mit.edu	37	1	233802715	233802715	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:233802715C>T	ENST00000366621.3	+	2	898	c.730C>T	c.(730-732)Ctc>Ttc	p.L244F	KCNK1_ENST00000366620.1_Missense_Mutation_p.L128F|KCNK1_ENST00000472190.1_3'UTR	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	244					potassium ion transport (GO:0006813)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)	p.L244F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)	ATTCAGAGAGCTCTATAAGAT	0.393																																					p.L244F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C730T	1						.						55.0	61.0	59.0					1																	233802715		2203	4300	6503	231869338	SO:0001583	missense	3775	exon2			U33632	CCDS1599.1	1q42-q43	2012-03-07			ENSG00000135750	ENSG00000135750		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6272	protein-coding gene	gene with protein product		601745				8661042, 16382106	Standard	NM_002245		Approved	K2p1.1, DPK, TWIK-1	uc010pxo.1	O00180	OTTHUMG00000037923	ENST00000366621.3:c.730C>T	1.37:g.233802715C>T	ENSP00000355580:p.Leu244Phe		231869338	NM_002245	Q13307|Q5T5E8	Missense_Mutation	SNP	ENST00000366621.3	37	CCDS1599.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.847416	0.71603	.	.	ENSG00000135750	ENST00000366621;ENST00000366620;ENST00000446915	T;D;D	0.97791	1.69;-4.54;-4.54	5.79	2.84	0.33178	Ion transport 2 (1);	0.188823	0.47455	N	0.000237	D	0.96460	0.8845	L	0.45352	1.415	0.80722	D	1	P	0.51147	0.942	P	0.57720	0.826	D	0.93344	0.6712	10	0.20519	T	0.43	.	7.3376	0.26619	0.1273:0.6763:0.0:0.1964	.	244	O00180	KCNK1_HUMAN	F	244;128;162	ENSP00000355580:L244F;ENSP00000355579:L128F;ENSP00000409626:L162F	ENSP00000355579:L128F	L	+	1	0	KCNK1	231869338	1.000000	0.71417	0.965000	0.40720	0.989000	0.77384	2.543000	0.45752	0.748000	0.32831	0.655000	0.94253	CTC		0.393	KCNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092565.1	NM_002245	
NID1	4811	broad.mit.edu	37	1	236157142	236157142	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:236157142C>T	ENST00000264187.6	-	13	2640	c.2558G>A	c.(2557-2559)cGa>cAa	p.R853Q	NID1_ENST00000366595.3_Missense_Mutation_p.R720Q	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	853	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)	p.R853Q(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	AATGTGTTCTCGCTCGTGCTG	0.637																																					p.R853Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2558A	1						.						31.0	31.0	31.0					1																	236157142		2203	4300	6503	234223765	SO:0001583	missense	4811	exon13			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.2558G>A	1.37:g.236157142C>T	ENSP00000264187:p.Arg853Gln		234223765	NM_002508	Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.790637	0.50102	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	T;T	0.66638	-0.22;-0.22	5.56	5.56	0.83823	Thyroglobulin type-1 (3);	0.171829	0.49916	D	0.000140	T	0.69575	0.3126	M	0.67517	2.055	0.09310	N	1	P;D	0.59357	0.617;0.985	B;P	0.53593	0.051;0.73	T	0.65573	-0.6135	10	0.37606	T	0.19	.	6.0676	0.19871	0.1784:0.7035:0.0:0.1181	.	720;853	P14543-2;P14543	.;NID1_HUMAN	Q	853;720	ENSP00000264187:R853Q;ENSP00000355554:R720Q	ENSP00000264187:R853Q	R	-	2	0	NID1	234223765	0.014000	0.17966	0.927000	0.36925	0.579000	0.36224	2.108000	0.41854	2.608000	0.88229	0.455000	0.32223	CGA		0.637	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508	
LYPLA2	11313	broad.mit.edu	37	1	24123370	24123370	+	IGR	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:24123370G>T	ENST00000374514.3	+	0	1810				GALE_ENST00000374497.3_Silent_p.G235G|GALE_ENST00000470383.1_5'Flank	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN	lysophospholipase II						fatty acid metabolic process (GO:0006631)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)	p.G235G(1)		endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	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)		GCTCACCTGTGCCATCCTCTG	0.597																																					p.G235G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C705A	1						.						71.0	70.0	71.0					1																	24123370		2203	4300	6503	23995957	SO:0001628	intergenic_variant	2582	exon8			AF098668	CCDS241.1	1p36.11	2008-08-08			ENSG00000011009	ENSG00000011009	3.1.1.5		6738	protein-coding gene	gene with protein product							Standard	NM_007260		Approved	APT-2	uc001bht.3	O95372	OTTHUMG00000002961		1.37:g.24123370G>T			23995957	NM_000403	Q7Z4Z2	Silent	SNP	ENST00000374514.3	37	CCDS241.1																																																																																				0.597	LYPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008245.1		
OPN3	23596	broad.mit.edu	37	1	241757982	241757982	+	Silent	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:241757982G>A	ENST00000366554.2	-	4	1063	c.957C>T	c.(955-957)tcC>tcT	p.S319S	OPN3_ENST00000331838.5_Silent_p.S240S|KMO_ENST00000366559.4_3'UTR|OPN3_ENST00000469376.1_5'UTR|KMO_ENST00000366557.4_3'UTR	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	319					detection of light stimulus (GO:0009583)|detection of visible light (GO:0009584)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)	p.S319S(1)		endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			GCTGCAAAAGGGATCTTCGAA	0.443																																					p.S319S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C957T	1						.						73.0	78.0	76.0					1																	241757982		2203	4300	6503	239824605	SO:0001819	synonymous_variant	23596	exon4			AF140242	CCDS31072.1	1q43	2014-06-13	2008-04-16		ENSG00000054277	ENSG00000054277		"""GPCR / Class A : Opsin receptors"""	14007	protein-coding gene	gene with protein product	"""panopsin"", ""protein phosphatase 1, regulatory subunit 116"""	606695	"""encephalopsin"""	ECPN		10234000, 11401433	Standard	NM_014322		Approved	ERO, NMO-1, encephalopsin, PPP1R116	uc001hza.3	Q9H1Y3	OTTHUMG00000039691	ENST00000366554.2:c.957C>T	1.37:g.241757982G>A			239824605	NM_014322	Q8IX08|Q9Y344	Silent	SNP	ENST00000366554.2	37	CCDS31072.1																																																																																				0.443	OPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095713.1	NM_014322	
OR2T11	127077	broad.mit.edu	37	1	248790027	248790027	+	Missense_Mutation	SNP	G	G	A	rs541947086		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:248790027G>A	ENST00000330803.2	-	1	464	c.403C>T	c.(403-405)Cgc>Tgc	p.R135C		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R135C(2)		breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|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;0.0265)			CACTTCTTGCGGTTCATCAGG	0.547													.|||	1	0.000199681	0.0	0.0	5008	,	,		16893	0.0		0.0	False		,,,				2504	0.001				p.R135C												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C403T	1						.						48.0	56.0	54.0					1																	248790027		2052	4232	6284	246856650	SO:0001583	missense	127077	exon1			BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"""GPCR / Class A : Olfactory receptors"""	19574	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 11"""				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.403C>T	1.37:g.248790027G>A	ENSP00000328934:p.Arg135Cys		246856650	NM_001001964	Q6IEY6	Missense_Mutation	SNP	ENST00000330803.2	37	CCDS31122.1	.	.	.	.	.	.	.	.	.	.	.	3.341	-0.134634	0.06711	.	.	ENSG00000183130	ENST00000330803	T	0.25749	1.78	4.38	2.43	0.29744	GPCR, rhodopsin-like superfamily (1);	0.947310	0.08686	N	0.908658	T	0.29914	0.0748	M	0.76727	2.345	0.22511	N	0.999034	B	0.11235	0.004	B	0.04013	0.001	T	0.29427	-1.0012	10	0.52906	T	0.07	.	7.6249	0.28206	0.0889:0.0:0.7475:0.1636	.	135	Q8NH01	O2T11_HUMAN	C	135	ENSP00000328934:R135C	ENSP00000328934:R135C	R	-	1	0	OR2T11	246856650	0.000000	0.05858	0.197000	0.23402	0.094000	0.18550	0.209000	0.17435	0.428000	0.26173	0.650000	0.86243	CGC		0.547	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964	
SH3BP5L	80851	broad.mit.edu	37	1	249107253	249107253	+	Missense_Mutation	SNP	G	G	A	rs147597154		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:249107253G>A	ENST00000366472.5	-	6	1875	c.646C>T	c.(646-648)Cgg>Tgg	p.R216W	SH3BP5L_ENST00000411742.2_Missense_Mutation_p.R184W|SH3BP5L_ENST00000475978.1_5'UTR	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	216								p.R216W(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			ATGGCCCTCCGGAGGGTCTTC	0.647																																					p.R216W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C646T	1						.	G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	50.0	51.0	50.0		646	3.3	1.0	1	dbSNP_134	50	0,8600		0,0,4300	no	missense	SH3BP5L	NM_030645.1	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	216/394	249107253	1,13005	2203	4300	6503	247073876	SO:0001583	missense	80851	exon6			AB051507	CCDS31126.1	1q44	2008-02-05			ENSG00000175137	ENSG00000175137			29360	protein-coding gene	gene with protein product							Standard	NM_030645		Approved	KIAA1720	uc001iew.1	Q7L8J4	OTTHUMG00000040389	ENST00000366472.5:c.646C>T	1.37:g.249107253G>A	ENSP00000355428:p.Arg216Trp		247073876	NM_030645	B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	Missense_Mutation	SNP	ENST00000366472.5	37	CCDS31126.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827676	0.71143	2.27E-4	0.0	ENSG00000175137	ENST00000366472;ENST00000411742	T	0.79749	-1.3	4.4	3.34	0.38264	.	0.062848	0.64402	D	0.000010	T	0.81791	0.4897	L	0.36672	1.1	0.43364	D	0.995443	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.67103	0.949;0.949;0.949;0.949	T	0.82366	-0.0493	10	0.87932	D	0	-35.759	8.8411	0.35142	0.0:0.0:0.6204:0.3796	.	184;109;216;74	B4DQ94;B4DSF1;Q7L8J4;Q96MW4	.;.;3BP5L_HUMAN;.	W	216;184	ENSP00000412203:R184W	ENSP00000355428:R216W	R	-	1	2	SH3BP5L	247073876	0.998000	0.40836	1.000000	0.80357	0.932000	0.56968	3.981000	0.56902	2.156000	0.67533	0.467000	0.42956	CGG		0.647	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097140.1	NM_030645	
SRRM1	10250	broad.mit.edu	37	1	24975513	24975513	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:24975513A>G	ENST00000323848.9	+	4	713	c.398A>G	c.(397-399)cAa>cGa	p.Q133R	SRRM1_ENST00000447431.2_Missense_Mutation_p.Q133R|SRRM1_ENST00000537199.1_Missense_Mutation_p.Q32R|SRRM1_ENST00000374389.4_Missense_Mutation_p.Q133R|SRRM1_ENST00000479034.1_3'UTR	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	133	Necessary for DNA and RNA-binding.|Necessary for mRNA 3'-end cleavage and cytoplasmic accumulation.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.Q133R(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		GAAATAAAACAAAGACAGGTA	0.428																																					p.Q133R	Ovarian(68;897 1494 3282 17478)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A398G	1						.						75.0	84.0	81.0					1																	24975513		2203	4300	6503	24848100	SO:0001583	missense	10250	exon4			AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.398A>G	1.37:g.24975513A>G	ENSP00000326261:p.Gln133Arg		24848100	NM_005839	O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	37	CCDS255.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.947610	0.73787	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389;ENST00000537199	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.68	5.68	0.88126	Splicing factor PWI (2);	0.000000	0.53938	D	0.000051	T	0.62998	0.2474	M	0.63843	1.955	0.80722	D	1	P;P	0.44281	0.831;0.741	D;P	0.66497	0.944;0.881	T	0.63247	-0.6680	10	0.59425	D	0.04	-2.8078	16.2237	0.82280	1.0:0.0:0.0:0.0	.	133;133	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	R	133;133;133;32	ENSP00000326261:Q133R;ENSP00000391430:Q133R;ENSP00000363510:Q133R;ENSP00000441776:Q32R	ENSP00000326261:Q133R	Q	+	2	0	SRRM1	24848100	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.022000	0.93678	2.289000	0.77006	0.482000	0.46254	CAA		0.428	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839	
TMEM57	55219	broad.mit.edu	37	1	25785078	25785078	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:25785078A>G	ENST00000374343.4	+	6	1028	c.849A>G	c.(847-849)atA>atG	p.I283M	TMEM57_ENST00000399763.3_Intron|TMEM57_ENST00000470035.1_3'UTR|TMEM57_ENST00000399766.3_Intron	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	283					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)		p.I283M(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		ACTCTAAAATACAAGAGATTG	0.328																																					p.I283M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A849G	1						.						90.0	95.0	93.0					1																	25785078		2203	4300	6503	25657665	SO:0001583	missense	55219	exon6			AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.849A>G	1.37:g.25785078A>G	ENSP00000363463:p.Ile283Met		25657665	NM_018202	B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Missense_Mutation	SNP	ENST00000374343.4	37	CCDS30638.1	.	.	.	.	.	.	.	.	.	.	A	10.14	1.268294	0.23136	.	.	ENSG00000204178	ENST00000374343	T	0.14144	2.53	5.78	3.31	0.37934	.	0.141731	0.64402	D	0.000003	T	0.09555	0.0235	L	0.29908	0.895	0.80722	D	1	B	0.27316	0.175	B	0.27262	0.078	T	0.15492	-1.0435	10	0.45353	T	0.12	-17.0146	6.7203	0.23327	0.63:0.296:0.0739:0.0	.	283	Q8N5G2	MACOI_HUMAN	M	283	ENSP00000363463:I283M	ENSP00000363463:I283M	I	+	3	3	TMEM57	25657665	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.818000	0.39012	0.995000	0.38917	0.460000	0.39030	ATA		0.328	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2	NM_018202	
CNKSR1	10256	broad.mit.edu	37	1	26510564	26510564	+	Silent	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:26510564G>A	ENST00000374253.5	+	10	918	c.879G>A	c.(877-879)acG>acA	p.T293T	CNKSR1_ENST00000361530.6_Silent_p.T286T|CNKSR1_ENST00000531191.1_Silent_p.T28T	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	293	Pro-rich.				Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)	p.T286T(2)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TTCCCCAGACGCCCCCTCAGG	0.622																																					p.T286T	NSCLC(180;1396 2109 28270 30756 34275)											.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.G858A	1						.						71.0	72.0	72.0					1																	26510564		2203	4300	6503	26383151	SO:0001819	synonymous_variant	10256	exon10			AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.879G>A	1.37:g.26510564G>A			26383151	NM_006314	B1AMW9|O95381	Silent	SNP	ENST00000374253.5	37		.	.	.	.	.	.	.	.	.	.	g	4.773	0.143775	0.09134	.	.	ENSG00000142675	ENST00000422547	.	.	.	3.86	-7.72	0.01250	.	.	.	.	.	T	0.17492	0.0420	.	.	.	0.21967	N	0.999442	.	.	.	.	.	.	T	0.22591	-1.0212	4	.	.	.	0.414	3.6005	0.08023	0.1295:0.2105:0.4736:0.1863	.	.	.	.	T	262	.	.	A	+	1	0	CNKSR1	26383151	0.000000	0.05858	0.000000	0.03702	0.511000	0.34104	-1.107000	0.03316	-1.653000	0.01500	-0.452000	0.05504	GCC		0.622	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314	
XKR8	55113	broad.mit.edu	37	1	28293425	28293425	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:28293425C>T	ENST00000373884.5	+	3	1510	c.902C>T	c.(901-903)gCc>gTc	p.A301V		NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related family, member 8	301					engulfment of apoptotic cell (GO:0043652)|phosphatidylserine exposure on apoptotic cell surface (GO:0070782)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A301V(1)		endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		CTCCTGGTGGCCACCTGGGTG	0.627																																					p.A301V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C902T	1						.						39.0	39.0	39.0					1																	28293425		2203	4300	6503	28166012	SO:0001583	missense	55113	exon3			AK091615	CCDS315.1	1p35.3	2008-02-05	2006-01-12		ENSG00000158156	ENSG00000158156			25508	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 8"""			12477932	Standard	NM_018053		Approved	FLJ10307	uc001bph.1	Q9H6D3	OTTHUMG00000003912	ENST00000373884.5:c.902C>T	1.37:g.28293425C>T	ENSP00000362991:p.Ala301Val		28166012	NM_018053		Missense_Mutation	SNP	ENST00000373884.5	37	CCDS315.1	.	.	.	.	.	.	.	.	.	.	C	1.344	-0.593212	0.03771	.	.	ENSG00000158156	ENST00000373884	T	0.63744	-0.06	4.73	-3.38	0.04883	.	1.732920	0.02857	N	0.129747	T	0.36608	0.0973	N	0.04018	-0.295	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.32295	-0.9912	10	0.10377	T	0.69	.	10.1175	0.42601	0.0:0.1974:0.1068:0.6959	.	301	Q9H6D3	XKR8_HUMAN	V	301	ENSP00000362991:A301V	ENSP00000362991:A301V	A	+	2	0	XKR8	28166012	0.000000	0.05858	0.672000	0.29872	0.316000	0.28119	-0.895000	0.04118	-0.746000	0.04766	-0.797000	0.03246	GCC		0.627	XKR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011175.1	NM_018053	
SFPQ	6421	broad.mit.edu	37	1	35654937	35654937	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:35654937A>G	ENST00000357214.5	-	5	1560	c.1462T>C	c.(1462-1464)Tac>Cac	p.Y488H		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	488					alternative mRNA splicing, via spliceosome (GO:0000380)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H3 deacetylation (GO:0070932)|mRNA processing (GO:0006397)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|histone deacetylase binding (GO:0042826)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.Y488H(1)	SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				GAATATTCGTACTCAAACGTG	0.383			T	TFE3	papillary renal cell																																p.Y488H			Dom	yes		1	1p34.3	6421	splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated)		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1462C	1						.						89.0	77.0	81.0					1																	35654937		2203	4300	6503	35427524	SO:0001583	missense	6421	exon5			X70944	CCDS388.1	1p34.3	2014-06-13	2010-05-04		ENSG00000116560	ENSG00000116560		"""RNA binding motif (RRM) containing"""	10774	protein-coding gene	gene with protein product	"""polypyrimidine tract binding protein associated"", ""protein phosphatase 1, regulatory subunit 140"""	605199	"""splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated)"""			8449401	Standard	NM_005066		Approved	PSF, PPP1R140	uc001bys.3	P23246	OTTHUMG00000004157	ENST00000357214.5:c.1462T>C	1.37:g.35654937A>G	ENSP00000349748:p.Tyr488His		35427524	NM_005066	P30808|Q5SZ71	Missense_Mutation	SNP	ENST00000357214.5	37	CCDS388.1	.	.	.	.	.	.	.	.	.	.	A	19.48	3.836103	0.71373	.	.	ENSG00000116560	ENST00000357214	T	0.39997	1.05	5.84	5.84	0.93424	NOPS (1);	0.159129	0.56097	D	0.000027	T	0.42017	0.1184	N	0.16567	0.415	0.52099	D	0.999942	D	0.53885	0.963	P	0.58331	0.837	T	0.18935	-1.0321	10	0.10636	T	0.68	-12.6981	16.2108	0.82158	1.0:0.0:0.0:0.0	.	488	P23246	SFPQ_HUMAN	H	488	ENSP00000349748:Y488H	ENSP00000349748:Y488H	Y	-	1	0	SFPQ	35427524	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	9.270000	0.95690	2.232000	0.73038	0.533000	0.62120	TAC		0.383	SFPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011984.4	NM_005066	
THRAP3	9967	broad.mit.edu	37	1	36752132	36752132	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:36752132C>T	ENST00000354618.5	+	4	525	c.301C>T	c.(301-303)Cga>Tga	p.R101*	THRAP3_ENST00000469141.2_Nonsense_Mutation_p.R101*	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	101	Arg-rich.|Required for mRNA splicing activation.|Ser-rich.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|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.R101*(2)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCAATATAACCGAGGAGGCTA	0.502			T	USP6	aneurysmal bone cysts																																p.R101X	Pancreas(129;785 1795 20938 23278 32581)		Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C301T	1						.						100.0	101.0	101.0					1																	36752132		2203	4300	6503	36524719	SO:0001587	stop_gained	9967	exon4			AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.301C>T	1.37:g.36752132C>T	ENSP00000346634:p.Arg101*		36524719	NM_005119	D3DPS5|Q5VTK6	Nonsense_Mutation	SNP	ENST00000354618.5	37	CCDS405.1	.	.	.	.	.	.	.	.	.	.	C	36	5.699752	0.96802	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	.	.	.	5.51	4.59	0.56863	.	0.000000	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.5774	14.3908	0.66978	0.2664:0.7336:0.0:0.0	.	.	.	.	X	101	.	ENSP00000346634:R101X	R	+	1	2	THRAP3	36524719	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	1.613000	0.36900	1.427000	0.47276	0.655000	0.94253	CGA		0.502	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119	
NFYC	4802	broad.mit.edu	37	1	41228639	41228639	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:41228639A>G	ENST00000308733.5	+	6	647	c.641A>G	c.(640-642)cAg>cGg	p.Q214R	NFYC_ENST00000372653.1_Intron|NFYC_ENST00000427410.2_Missense_Mutation_p.Q176R|NFYC_ENST00000372651.1_Missense_Mutation_p.Q214R|NFYC_ENST00000372654.1_Missense_Mutation_p.Q214R|NFYC_ENST00000440226.3_Missense_Mutation_p.Q214R|NFYC_ENST00000447388.3_Missense_Mutation_p.Q214R|NFYC_ENST00000372652.1_Missense_Mutation_p.Q214R|NFYC_ENST00000456393.2_Missense_Mutation_p.Q214R|NFYC_ENST00000425457.2_Missense_Mutation_p.Q214R			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	214					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.Q214R(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			CAAGCCCAACAGGCCCAGAGT	0.552																																					p.Q214R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A641G	1						.						90.0	74.0	80.0					1																	41228639		2203	4300	6503	41001226	SO:0001583	missense	4802	exon7			U78774	CCDS455.1, CCDS44120.1, CCDS44121.1, CCDS44122.1, CCDS44123.1	1p32	2008-11-11			ENSG00000066136	ENSG00000066136			7806	protein-coding gene	gene with protein product		605344				8921405, 9249075	Standard	NM_014223		Approved	CBF-C, NF-YC	uc009vwd.3	Q13952	OTTHUMG00000007729	ENST00000308733.5:c.641A>G	1.37:g.41228639A>G	ENSP00000312617:p.Gln214Arg		41001226	NM_014223	B4DUS6|B4DW63|D3DPV9|F8VWM3|Q59GY4|Q5T6K8|Q5T6K9|Q5T6L1|Q5TZR6|Q92869|Q9HBX1|Q9NXB5|Q9UM67|Q9UML0|Q9UMT7	Missense_Mutation	SNP	ENST00000308733.5	37		.	.	.	.	.	.	.	.	.	.	A	12.17	1.858604	0.32791	.	.	ENSG00000066136	ENST00000427410;ENST00000447388;ENST00000425457;ENST00000456393;ENST00000372658;ENST00000372655;ENST00000372654;ENST00000372669;ENST00000372652;ENST00000372651;ENST00000440226;ENST00000308733	T;T;T;T;T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73	5.56	4.42	0.53409	.	0.173255	0.52532	D	0.000071	T	0.44414	0.1292	L	0.56769	1.78	0.40475	D	0.980386	B;P;B;P;B;B;P	0.36048	0.144;0.531;0.396;0.531;0.144;0.144;0.534	B;B;B;B;B;B;B	0.35971	0.038;0.141;0.107;0.215;0.038;0.038;0.062	T	0.45512	-0.9256	10	0.62326	D	0.03	.	10.957	0.47364	0.8427:0.1573:0.0:0.0	.	176;120;214;214;214;214;214	B4DW63;B4DVS8;Q13952;Q13952-3;F8VWM3;Q13952-2;B4DUS6	.;.;NFYC_HUMAN;.;.;.;.	R	176;214;214;214;112;112;214;214;214;214;214;214	ENSP00000408315:Q176R;ENSP00000404427:Q214R;ENSP00000396620:Q214R;ENSP00000408867:Q214R;ENSP00000361738:Q214R;ENSP00000361754:Q214R;ENSP00000361736:Q214R;ENSP00000361734:Q214R;ENSP00000414299:Q214R;ENSP00000312617:Q214R	ENSP00000312617:Q214R	Q	+	2	0	NFYC	41001226	1.000000	0.71417	1.000000	0.80357	0.222000	0.24845	5.115000	0.64655	0.922000	0.37019	-0.622000	0.04023	CAG		0.552	NFYC-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000020802.1	NM_014223	
TIE1	7075	broad.mit.edu	37	1	43777390	43777390	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:43777390G>A	ENST00000372476.3	+	10	1461	c.1382G>A	c.(1381-1383)cGc>cAc	p.R461H	TIE1_ENST00000433781.2_Missense_Mutation_p.R106H	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	461	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R461H(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AAGCAGAGCCGCCAGCTTGTG	0.647																																					p.R461H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1382A	1						.						55.0	57.0	56.0					1																	43777390		2203	4300	6503	43549977	SO:0001583	missense	7075	exon10			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1382G>A	1.37:g.43777390G>A	ENSP00000361554:p.Arg461His		43549977	NM_005424	B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	CCDS482.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861329	0.71949	.	.	ENSG00000066056	ENST00000372476;ENST00000433781	T;T	0.57436	0.4;0.4	5.17	5.17	0.71159	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.36555	N	0.002525	T	0.63271	0.2497	L	0.50333	1.59	0.48632	D	0.999682	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.999	D;D;D;D;D	0.74023	0.911;0.961;0.982;0.947;0.964	T	0.58188	-0.7680	10	0.25106	T	0.35	.	12.0742	0.53634	0.0789:0.0:0.9211:0.0	.	106;416;461;106;461	E9PG63;B4DTW8;B5A952;B4DKW0;P35590	.;.;.;.;TIE1_HUMAN	H	461;106	ENSP00000361554:R461H;ENSP00000411728:R106H	ENSP00000361554:R461H	R	+	2	0	TIE1	43549977	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.465000	0.66725	2.421000	0.82119	0.563000	0.77884	CGC		0.647	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424	
CDC20	991	broad.mit.edu	37	1	43826514	43826514	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:43826514A>T	ENST00000372462.1	+	7	1162	c.959A>T	c.(958-960)gAt>gTt	p.D320V	CDC20_ENST00000478882.1_3'UTR|RP1-92O14.3_ENST00000424948.1_RNA|CDC20_ENST00000310955.6_Missense_Mutation_p.D320V			Q12834	CDC20_HUMAN	cell division cycle 20	320					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle (GO:0007049)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein ubiquitination (GO:0016567)|regulation of dendrite development (GO:0050773)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|spindle (GO:0005819)	enzyme binding (GO:0019899)|protein C-terminus binding (GO:0008022)	p.D320V(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGGGCCCCAGATGGACGACAT	0.577																																					p.D320V	Esophageal Squamous(137;1154 1759 10362 10401 46925)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A959T	1						.						95.0	92.0	93.0					1																	43826514		2203	4300	6503	43599101	SO:0001583	missense	991	exon8			U05340	CCDS484.1	1p34.1	2013-01-17	2013-01-17		ENSG00000117399	ENSG00000117399		"""WD repeat domain containing"""	1723	protein-coding gene	gene with protein product		603618	"""CDC20 (cell division cycle 20, S. cerevisiae, homolog)"", ""CDC20 cell division cycle 20 homolog (S. cerevisiae)"", ""cell division cycle 20 homolog (S. cerevisiae)"""			7513050, 9353311	Standard	NM_001255		Approved	p55CDC, CDC20A	uc001cix.3	Q12834	OTTHUMG00000007420	ENST00000372462.1:c.959A>T	1.37:g.43826514A>T	ENSP00000361540:p.Asp320Val		43599101	NM_001255	B2R6Z6|D3DPJ1|Q5JUY4|Q9BW56|Q9UQI9	Missense_Mutation	SNP	ENST00000372462.1	37	CCDS484.1	.	.	.	.	.	.	.	.	.	.	A	19.81	3.897240	0.72639	.	.	ENSG00000117399	ENST00000437896;ENST00000310955;ENST00000372462	T;T	0.36699	1.24;1.24	5.6	5.6	0.85130	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.084609	0.85682	D	0.000000	T	0.63343	0.2503	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68743	-0.5328	10	0.87932	D	0	-8.2267	15.7766	0.78224	1.0:0.0:0.0:0.0	.	320	Q12834	CDC20_HUMAN	V	296;320;320	ENSP00000308450:D320V;ENSP00000361540:D320V	ENSP00000308450:D320V	D	+	2	0	CDC20	43599101	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.489000	0.81451	2.143000	0.66587	0.459000	0.35465	GAT		0.577	CDC20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019488.1	NM_001255	
DMBX1	127343	broad.mit.edu	37	1	46977842	46977842	+	Silent	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:46977842G>A	ENST00000360032.3	+	4	824	c.810G>A	c.(808-810)gcG>gcA	p.A270A	DMBX1_ENST00000371956.4_Silent_p.A275A	NM_172225.1	NP_757379.1			diencephalon/mesencephalon homeobox 1									p.A275A(1)		endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					AGCACATGGCGGCCACCAACA	0.672																																					p.A270A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G810A	1						.						52.0	55.0	54.0					1																	46977842		2203	4300	6503	46750429	SO:0001819	synonymous_variant	127343	exon4			AB037699	CCDS536.1	1p34.1	2011-06-20	2004-03-29	2004-03-30	ENSG00000197587	ENSG00000197587		"""Homeoboxes / PRD class"""	19026	protein-coding gene	gene with protein product		607410	"""orthodenticle homolog 3 (Drosophila)"""	OTX3			Standard	NM_147192		Approved	PAXB	uc001cpx.3	Q8NFW5	OTTHUMG00000007982	ENST00000360032.3:c.810G>A	1.37:g.46977842G>A			46750429	NM_172225		Silent	SNP	ENST00000360032.3	37	CCDS536.1																																																																																				0.672	DMBX1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021895.1		
ORC1	4998	broad.mit.edu	37	1	52859227	52859227	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:52859227C>T	ENST00000371568.3	-	6	1188	c.970G>A	c.(970-972)Gct>Act	p.A324T	ORC1_ENST00000371566.1_Missense_Mutation_p.A324T	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	324					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.A324T(1)		breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GTTTTCGAAGCTGCAATTCGG	0.468																																					p.A324T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G970A	1						.						220.0	198.0	205.0					1																	52859227		2203	4300	6503	52631815	SO:0001583	missense	4998	exon6				CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"""ATPases / AAA-type"""	8487	protein-coding gene	gene with protein product	"""origin recognition complex, subunit 1, S. cerevisiae, homolog-like"", ""origin recognition complex 1"", ""replication control protein 1"""	601902	"""origin recognition complex, subunit 1 (yeast homolog)-like"", ""origin recognition complex, subunit 1-like (yeast)"", ""origin recognition complex, subunit 1 homolog (S. cerevisiae)"""	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.970G>A	1.37:g.52859227C>T	ENSP00000360623:p.Ala324Thr		52631815	NM_001190818	D3DQ34|Q13471|Q5T0F5	Missense_Mutation	SNP	ENST00000371568.3	37	CCDS566.1	.	.	.	.	.	.	.	.	.	.	C	9.281	1.048190	0.19827	.	.	ENSG00000085840	ENST00000371568;ENST00000371566	T;T	0.42131	0.98;0.98	4.49	-2.2	0.06994	.	0.892392	0.09947	N	0.735109	T	0.32912	0.0845	M	0.62723	1.935	0.09310	N	1	B;B	0.14805	0.005;0.011	B;B	0.12156	0.005;0.007	T	0.33727	-0.9857	10	0.39692	T	0.17	-1.1895	2.9031	0.05712	0.4054:0.2449:0.2649:0.0848	.	324;324	B7Z8H0;Q13415	.;ORC1_HUMAN	T	324	ENSP00000360623:A324T;ENSP00000360621:A324T	ENSP00000360621:A324T	A	-	1	0	ORC1	52631815	0.004000	0.15560	0.000000	0.03702	0.003000	0.03518	-0.185000	0.09684	-0.386000	0.07821	-0.150000	0.13652	GCT		0.468	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022202.1	NM_004153	
USP24	23358	broad.mit.edu	37	1	55607328	55607328	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:55607328G>A	ENST00000294383.6	-	24	2710	c.2711C>T	c.(2710-2712)gCc>gTc	p.A904V	USP24_ENST00000407756.1_Missense_Mutation_p.A744V	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	904					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.A904V(2)|p.A821V(2)		breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						AGTTGGCATGGCAGTTGCTGT	0.413																																					p.A904V												.	.	4	Substitution - Missense(4)	large_intestine(2)|skin(2)	c.C2711T	1						.						143.0	141.0	141.0					1																	55607328		1954	4147	6101	55379916	SO:0001583	missense	23358	exon24			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.2711C>T	1.37:g.55607328G>A	ENSP00000294383:p.Ala904Val		55379916	NM_015306	Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	G	17.55	3.418118	0.62622	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.02301	4.35;4.36	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.07773	0.0195	L	0.34521	1.04	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.50923	-0.8770	10	0.30854	T	0.27	.	19.7802	0.96413	0.0:0.0:1.0:0.0	.	744	B7WPF4	.	V	904;744	ENSP00000294383:A904V;ENSP00000385700:A744V	ENSP00000294383:A904V	A	-	2	0	USP24	55379916	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.669000	0.90835	0.561000	0.74099	GCC		0.413	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2		
OMA1	115209	broad.mit.edu	37	1	58946750	58946750	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:58946750A>G	ENST00000371226.3	-	9	1575	c.1462T>C	c.(1462-1464)Tca>Cca	p.S488P	DAB1_ENST00000485760.1_Intron|OMA1_ENST00000358603.2_Intron	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	488					cristae formation (GO:0042407)|diet induced thermogenesis (GO:0002024)|energy homeostasis (GO:0097009)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrial protein processing (GO:0034982)|negative regulation of mitochondrial fusion (GO:0010637)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.S488P(1)		NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					TCTTTCTCTGATTCTTCAAGA	0.358																																					p.S488P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1462C	1						.						156.0	145.0	149.0					1																	58946750		2203	4300	6503	58719338	SO:0001583	missense	115209	exon9			AK091101	CCDS608.1	1p32.2-p32.1	2013-05-03	2013-05-03		ENSG00000162600	ENSG00000162600			29661	protein-coding gene	gene with protein product	"""overlapping activity with M-AAA protease"", ""zinc metallopeptidase OMA1"""		"""OMA1 zinc metallopeptidase homolog (S. cerevisiae)"""			12477932	Standard	NM_145243		Approved	MPRP-1, YKR087C, ZMPOMA1, FLJ33782	uc001cyy.3	Q96E52	OTTHUMG00000010068	ENST00000371226.3:c.1462T>C	1.37:g.58946750A>G	ENSP00000360270:p.Ser488Pro		58719338	NM_145243	D3DQ54|Q5T3G6|Q5T3G7|Q5T3G8|Q5T3G9|Q5T3H0|Q8NBB3	Missense_Mutation	SNP	ENST00000371226.3	37	CCDS608.1	.	.	.	.	.	.	.	.	.	.	A	13.01	2.109260	0.37242	.	.	ENSG00000162600	ENST00000371226	T	0.15603	2.41	4.18	-1.51	0.08664	.	0.798861	0.10626	N	0.652800	T	0.07503	0.0189	N	0.24115	0.695	0.58432	D	0.999997	P	0.38642	0.641	B	0.32289	0.143	T	0.39800	-0.9596	10	0.59425	D	0.04	-1.284	0.5883	0.00723	0.3536:0.1977:0.1084:0.3403	.	488	Q96E52	OMA1_HUMAN	P	488	ENSP00000360270:S488P	ENSP00000360270:S488P	S	-	1	0	OMA1	58719338	1.000000	0.71417	0.981000	0.43875	0.880000	0.50808	1.487000	0.35540	-0.040000	0.13580	0.377000	0.23210	TCA		0.358	OMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027819.1	NM_145243	
INADL	10207	broad.mit.edu	37	1	62263061	62263061	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:62263061T>C	ENST00000371158.2	+	11	1477	c.1363T>C	c.(1363-1365)Tcc>Ccc	p.S455P	INADL_ENST00000316485.6_Missense_Mutation_p.S455P	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	455					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.S455P(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AAGGAAGACATCCTCATCTAC	0.448																																					p.S455P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1363C	1						.						222.0	199.0	207.0					1																	62263061		2203	4300	6503	62035649	SO:0001583	missense	10207	exon11			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.1363T>C	1.37:g.62263061T>C	ENSP00000360200:p.Ser455Pro		62035649	NM_176877	O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	CCDS617.2	.	.	.	.	.	.	.	.	.	.	T	11.18	1.563107	0.27915	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.14144	2.63;2.53	4.98	2.43	0.29744	PDZ/DHR/GLGF (1);	0.669729	0.14819	N	0.296570	T	0.18841	0.0452	M	0.67953	2.075	0.09310	N	0.999995	P;P;P	0.50710	0.938;0.555;0.792	P;B;B	0.48368	0.575;0.215;0.37	T	0.10660	-1.0620	10	0.27082	T	0.32	.	7.6066	0.28105	0.0:0.2072:0.0:0.7928	.	455;455;455	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	P	455	ENSP00000360200:S455P;ENSP00000326199:S455P	ENSP00000255202:S455P	S	+	1	0	INADL	62035649	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.428000	0.06991	0.292000	0.22492	0.482000	0.46254	TCC		0.448	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605	
SRSF11	9295	broad.mit.edu	37	1	70694126	70694126	+	Silent	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:70694126A>G	ENST00000370950.3	+	3	307	c.225A>G	c.(223-225)tcA>tcG	p.S75S	SRSF11_ENST00000454435.2_Silent_p.S75S|SRSF11_ENST00000370951.1_Silent_p.S75S|SRSF11_ENST00000405432.1_Silent_p.S75S|SRSF11_ENST00000436161.2_Silent_p.S75S			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	75	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA 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)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S75S(1)		large_intestine(3)|ovary(2)|skin(1)	6						TGCCAGTCTCATCTCGTGTCT	0.378																																					p.S75S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A225G	1						.						168.0	145.0	153.0					1																	70694126		2203	4300	6503	70466714	SO:0001819	synonymous_variant	9295	exon3			M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10782	protein-coding gene	gene with protein product	"""SR splicing factor 11"""	602010	"""splicing factor, arginine/serine-rich 11"""	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.225A>G	1.37:g.70694126A>G			70466714	NM_004768	Q5T758|Q8IWE6	Silent	SNP	ENST00000370950.3	37	CCDS647.1																																																																																				0.378	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025889.1	NM_004768	
MSH4	4438	broad.mit.edu	37	1	76349322	76349322	+	Silent	SNP	T	T	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:76349322T>G	ENST00000263187.3	+	15	2027	c.1923T>G	c.(1921-1923)acT>acG	p.T641T		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	641					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)	p.T641T(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						CAGAATTTACTGATACTTTAG	0.299								Mismatch excision repair (MMR)																													p.T641T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1923G	1						.						53.0	55.0	54.0					1																	76349322		2203	4300	6503	76121910	SO:0001819	synonymous_variant	4438	exon15			U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.1923T>G	1.37:g.76349322T>G			76121910	NM_002440	Q5T4U6|Q8NEB3|Q9UNP8	Silent	SNP	ENST00000263187.3	37	CCDS670.1																																																																																				0.299	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440	
PTGFR	5737	broad.mit.edu	37	1	78959013	78959013	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:78959013C>A	ENST00000370757.3	+	2	822	c.585C>A	c.(583-585)gaC>gaA	p.D195E	PTGFR_ENST00000370756.3_Missense_Mutation_p.D195E|PTGFR_ENST00000370758.1_Missense_Mutation_p.D195E	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	195					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)	p.D195E(2)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	ACATCAAAGACTGGGAAGATA	0.403																																					p.D195E												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C585A	1						.						102.0	105.0	104.0					1																	78959013		2203	4300	6503	78731601	SO:0001583	missense	5737	exon2			AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"""GPCR / Class A : Prostanoid receptors"""	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.585C>A	1.37:g.78959013C>A	ENSP00000359793:p.Asp195Glu		78731601	NM_000959	A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Missense_Mutation	SNP	ENST00000370757.3	37	CCDS686.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.709122	0.30322	.	.	ENSG00000122420	ENST00000370758;ENST00000370757;ENST00000370756	T;T;T	0.36340	1.26;1.26;1.26	5.85	5.85	0.93711	GPCR, rhodopsin-like superfamily (1);	0.094954	0.64402	D	0.000001	T	0.10937	0.0267	N	0.12182	0.205	0.43830	D	0.9964	B;B	0.30439	0.117;0.279	B;B	0.36885	0.103;0.235	T	0.04078	-1.0979	10	0.02654	T	1	-17.8948	15.9664	0.79974	0.0:0.866:0.134:0.0	.	195;195	P43088;P43088-2	PF2R_HUMAN;.	E	195	ENSP00000359794:D195E;ENSP00000359793:D195E;ENSP00000359792:D195E	ENSP00000359792:D195E	D	+	3	2	PTGFR	78731601	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.984000	0.49353	2.941000	0.99782	0.655000	0.94253	GAC		0.403	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	NM_000959	
FNBP1L	54874	broad.mit.edu	37	1	94009667	94009667	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:94009667C>A	ENST00000271234.7	+	12	1319	c.1168C>A	c.(1168-1170)Cca>Aca	p.P390T	FNBP1L_ENST00000260506.8_Missense_Mutation_p.P332T|FNBP1L_ENST00000370256.4_Missense_Mutation_p.P385T|FNBP1L_ENST00000370253.2_Missense_Mutation_p.P332T|FNBP1L_ENST00000604705.1_Missense_Mutation_p.P390T	NM_001164473.2	NP_001157945.1	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	390	Interaction with CDC42.				autophagy (GO:0006914)|clathrin-mediated endocytosis (GO:0072583)|membrane budding (GO:0006900)|membrane invagination (GO:0010324)|membrane tubulation (GO:0097320)|positive regulation of filopodium assembly (GO:0051491)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.P332T(1)		breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		TTTTCAGGGCCCAGCACTAGA	0.333																																					p.P332T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C994A	1						.						53.0	48.0	50.0					1																	94009667		1807	4076	5883	93782255	SO:0001583	missense	54874	exon10				CCDS53343.1, CCDS53344.1, CCDS60192.1	1p22.1	2008-02-05	2004-11-16	2004-11-17	ENSG00000137942	ENSG00000137942			20851	protein-coding gene	gene with protein product		608848	"""chromosome 1 open reading frame 39"""	C1orf39		14654988	Standard	NM_017737		Approved	TOCA1, FLJ20275	uc010otk.2	Q5T0N5	OTTHUMG00000010863	ENST00000271234.7:c.1168C>A	1.37:g.94009667C>A	ENSP00000271234:p.Pro390Thr		93782255	NM_001024948	J3QSS4|Q5T0N6|Q6B097|Q6P653|Q6R4Q4|Q9NXG1	Missense_Mutation	SNP	ENST00000271234.7	37	CCDS53343.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.583747	0.65992	.	.	ENSG00000137942	ENST00000370256;ENST00000271234;ENST00000260506;ENST00000370253;ENST00000424449;ENST00000541733	T;T;T	0.49139	2.36;2.36;0.79	4.71	4.71	0.59529	.	0.309937	0.29307	N	0.012526	T	0.23688	0.0573	L	0.38838	1.175	0.53688	D	0.999973	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.08055	0.002;0.003;0.0	T	0.08659	-1.0711	10	0.15952	T	0.53	-30.3495	18.0377	0.89309	0.0:1.0:0.0:0.0	.	210;332;332	B4DSI7;Q5T0N5-4;Q5T0N5-3	.;.;.	T	385;390;332;385;199;82	ENSP00000359278:P385T;ENSP00000271234:P390T;ENSP00000260506:P332T	ENSP00000260506:P332T	P	+	1	0	FNBP1L	93782255	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.624000	0.61254	2.298000	0.77334	0.655000	0.94253	CCA		0.333	FNBP1L-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_017737	
DNTTIP2	30836	broad.mit.edu	37	1	94342201	94342201	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:94342201C>T	ENST00000436063.2	-	2	1347	c.1290G>A	c.(1288-1290)gcG>gcA	p.A430A	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	430			A -> V (in dbSNP:rs35650636).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A430A(1)		NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		ATGTGTTGGGCGCAGACGTGT	0.393																																					p.A430A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1290A	1						.						229.0	220.0	223.0					1																	94342201		1972	4163	6135	94114789	SO:0001819	synonymous_variant	30836	exon2			AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"""acidic 82 kDa protein mRNA"""	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.1290G>A	1.37:g.94342201C>T			94114789	NM_014597	Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Silent	SNP	ENST00000436063.2	37	CCDS44174.1																																																																																				0.393	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028317.2	NM_014597	
DPYD	1806	broad.mit.edu	37	1	98039474	98039474	+	Missense_Mutation	SNP	C	C	T	rs143815742		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:98039474C>T	ENST00000370192.3	-	11	1281	c.1181G>A	c.(1180-1182)cGg>cAg	p.R394Q		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	394					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.R394Q(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)	TATAACCTTCCGTGGGGACAG	0.388																																					p.R394Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1181A	1						.						107.0	97.0	100.0					1																	98039474		2203	4300	6503	97812062	SO:0001583	missense	1806	exon11			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.1181G>A	1.37:g.98039474C>T	ENSP00000359211:p.Arg394Gln		97812062	NM_000110	A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852006	0.71719	.	.	ENSG00000188641	ENST00000370192	D	0.88201	-2.35	5.81	5.81	0.92471	.	0.184617	0.47455	D	0.000221	T	0.72630	0.3484	L	0.39326	1.205	0.80722	D	1	P	0.52842	0.956	B	0.29663	0.105	T	0.75841	-0.3175	10	0.16896	T	0.51	-12.89	17.8525	0.88751	0.0:1.0:0.0:0.0	.	394	Q12882	DPYD_HUMAN	Q	394	ENSP00000359211:R394Q	ENSP00000359211:R394Q	R	-	2	0	DPYD	97812062	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.727000	0.68523	2.737000	0.93849	0.650000	0.86243	CGG		0.388	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110	
PHTF1	10745	broad.mit.edu	37	1	114267403	114267403	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:114267403delA	ENST00000369604.1	-	7	1084	c.601delT	c.(601-603)tggfs	p.W201fs	PHTF1_ENST00000369600.1_Frame_Shift_Del_p.W148fs|PHTF1_ENST00000393357.2_Frame_Shift_Del_p.W201fs|PHTF1_ENST00000369598.1_Intron|PHTF1_ENST00000357783.2_Frame_Shift_Del_p.W201fs|PHTF1_ENST00000447664.2_Frame_Shift_Del_p.W201fs|PHTF1_ENST00000369596.2_Frame_Shift_Del_p.W148fs			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	201					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.W201fs*12(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-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)		ATAGTCTCCCAAAAACCACCA	0.383																																					p.W201fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.601delT	1						.						85.0	89.0	87.0					1																	114267403		2203	4300	6503	114068926	SO:0001589	frameshift_variant	10745	exon6			AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.601delT	1.37:g.114267403delA	ENSP00000358617:p.Trp201fs		114068926	NM_006608	Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Frame_Shift_Del	DEL	ENST00000369604.1	37	CCDS861.1																																																																																				0.383	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032666.1	NM_006608	
ASPM	259266	broad.mit.edu	37	1	197073232	197073232	+	Frame_Shift_Del	DEL	T	T	-	rs199422167		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:197073232delT	ENST00000367409.4	-	18	5405	c.5149delA	c.(5149-5151)atafs	p.I1717fs	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1717					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.I1717fs*1(2)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGTGCAGCTATTTTTTTGGAA	0.373																																					p.I1717X												.	.	2	Deletion - Frameshift(2)	ovary(1)|large_intestine(1)	c.5149delA	1	GRCh37	CD077387	ASPM	D		.						107.0	107.0	107.0					1																	197073232		2203	4298	6501	195339855	SO:0001589	frameshift_variant	259266	exon18			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5149delA	1.37:g.197073232delT	ENSP00000356379:p.Ile1717fs		195339855	NM_018136	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Frame_Shift_Del	DEL	ENST00000367409.4	37	CCDS1389.1																																																																																				0.373	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136	
ABCB10	23456	broad.mit.edu	37	1	229654606	229654608	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	AGA	AGA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:229654606_229654608delAGA	ENST00000344517.4	-	12	2007_2009	c.1965_1967delTCT	c.(1963-1968)cttctc>ctc	p.655_656LL>L	ABCB10_ENST00000498158.1_5'UTR	NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	655	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.L657delL(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				TTCATCTAGGAGAAGAATTTTGG	0.291																																					p.655_656del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.1965_1967del	1						.																																			227721231	SO:0001651	inframe_deletion	23456	exon12			U18237	CCDS1580.1	1q32	2012-03-14			ENSG00000135776	ENSG00000135776		"""ATP binding cassette transporters / subfamily B"""	41	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family B member 10, mitochondrial"", ""ATP-binding cassette transporter 10"", ""ABC transporter 10 protein"", ""mitochondrial ATP-binding cassette 2"""	605454				7766993	Standard	NM_012089		Approved	EST20237, M-ABC2, MTABC2	uc001htp.4	Q9NRK6	OTTHUMG00000039471	ENST00000344517.4:c.1965_1967delTCT	1.37:g.229654609_229654611delAGA	ENSP00000355637:p.Leu657del		227721229	NM_012089	Q13040|Q6P1Q8|Q9H3V0	In_Frame_Del	DEL	ENST00000344517.4	37	CCDS1580.1																																																																																				0.291	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095240.1	NM_012089	
SH3BP5L	80851	broad.mit.edu	37	1	249108809	249108809	+	Splice_Site	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr1:249108809C>T	ENST00000366472.5	-	5	1605	c.376G>A	c.(376-378)Gct>Act	p.A126T	SH3BP5L_ENST00000411742.2_Splice_Site_p.A94T|SH3BP5L_ENST00000475978.1_5'UTR	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	126								p.A126T(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			TCCTGCTGAGCCTGGGGGGAG	0.592																																					p.A126T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G376A	1						.						56.0	50.0	52.0					1																	249108809		2203	4300	6503	247075432	SO:0001630	splice_region_variant	80851	exon5			AB051507	CCDS31126.1	1q44	2008-02-05			ENSG00000175137	ENSG00000175137			29360	protein-coding gene	gene with protein product							Standard	NM_030645		Approved	KIAA1720	uc001iew.1	Q7L8J4	OTTHUMG00000040389	ENST00000366472.5:c.376-1G>A	1.37:g.249108809C>T			247075432	NM_030645	B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	Missense_Mutation	SNP	ENST00000366472.5	37	CCDS31126.1	.	.	.	.	.	.	.	.	.	.	C	32	5.158093	0.94686	.	.	ENSG00000175137	ENST00000366472;ENST00000411742	T	0.79554	-1.28	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.89164	0.6637	M	0.75264	2.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.986	D	0.89257	0.3595	10	0.51188	T	0.08	-21.8831	16.5591	0.84535	0.0:1.0:0.0:0.0	.	94;19;126	B4DQ94;B4DSF1;Q7L8J4	.;.;3BP5L_HUMAN	T	126;94	ENSP00000412203:A94T	ENSP00000355428:A126T	A	-	1	0	SH3BP5L	247075432	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	6.687000	0.74552	2.582000	0.87167	0.655000	0.94253	GCT		0.592	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097140.1	NM_030645	Missense_Mutation
APMAP	57136	broad.mit.edu	37	20	24949598	24949598	+	Missense_Mutation	SNP	C	C	T	rs181867455		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr20:24949598C>T	ENST00000217456.2	-	8	1261	c.971G>A	c.(970-972)cGc>cAc	p.R324H	APMAP_ENST00000447138.1_Intron	NM_020531.2	NP_065392.1	Q9HDC9	APMAP_HUMAN	adipocyte plasma membrane associated protein	324					biosynthetic process (GO:0009058)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	arylesterase activity (GO:0004064)|strictosidine synthase activity (GO:0016844)	p.R324H(1)									AGGGTTAGGGCGGATGGTCGA	0.498													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16119	0.0		0.0	False		,,,				2504	0.0				p.R324H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G971A	20						.						75.0	75.0	75.0					20																	24949598		2203	4300	6503	24897598	SO:0001583	missense	57136	exon8			AB033767	CCDS13166.1	20p11.2	2012-07-20	2012-07-20	2012-07-20	ENSG00000101474	ENSG00000101474			13238	protein-coding gene	gene with protein product		615884	"""chromosome 20 open reading frame 3"""	C20orf3		10945474, 11583587, 20552250	Standard	NM_020531		Approved	BSCv	uc002wty.3	Q9HDC9	OTTHUMG00000032107	ENST00000217456.2:c.971G>A	20.37:g.24949598C>T	ENSP00000217456:p.Arg324His		24897598	NM_020531	A8K514|B4DXG1|Q6UVZ8|Q9GZS8|Q9NUB2	Missense_Mutation	SNP	ENST00000217456.2	37	CCDS13166.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	C|C	29.3|29.3	4.994717|4.994717	0.93167|0.93167	.|.	.|.	ENSG00000101474|ENSG00000101474	ENST00000451442|ENST00000217456	.|T	.|0.31510	.|1.49	5.54|5.54	5.54|5.54	0.83059|0.83059	.|Six-bladed beta-propeller, TolB-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.64483|0.64483	0.2602|0.2602	M|M	0.90922|0.90922	3.16|3.16	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.81914	.|0.981;0.995	T|T	0.69221|0.69221	-0.5202|-0.5202	5|10	.|0.46703	.|T	.|0.11	-16.4146|-16.4146	17.3202|17.3202	0.87233|0.87233	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|308;324	.|A2A2F9;Q9HDC9	.|.;APMAP_HUMAN	T|H	309|324	.|ENSP00000217456:R324H	.|ENSP00000217456:R324H	A|R	-|-	1|2	0|0	C20orf3|C20orf3	24897598|24897598	1.000000|1.000000	0.71417|0.71417	0.343000|0.343000	0.25615|0.25615	0.904000|0.904000	0.53231|0.53231	7.687000|7.687000	0.84139|0.84139	2.768000|2.768000	0.95171|0.95171	0.561000|0.561000	0.74099|0.74099	GCC|CGC		0.498	APMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078380.2	NM_020531	
ZNF337	26152	broad.mit.edu	37	20	25656024	25656024	+	Missense_Mutation	SNP	C	C	A	rs200053406		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr20:25656024C>A	ENST00000376436.1	-	4	2439	c.1900G>T	c.(1900-1902)Ggg>Tgg	p.G634W	ZNF337_ENST00000481610.1_5'Flank|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.G602W|ZNF337_ENST00000252979.5_Missense_Mutation_p.G634W|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000428254.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	634					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.G634W(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AAGCCTCGCCCACACTCCTTG	0.502																																					p.G634W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1900T	20						.						96.0	93.0	94.0					20																	25656024		2203	4300	6503	25604024	SO:0001583	missense	26152	exon5				CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.1900G>T	20.37:g.25656024C>A	ENSP00000365619:p.Gly634Trp		25604024	NM_015655	B4DSM2|Q9Y3Y5	Missense_Mutation	SNP	ENST00000376436.1	37	CCDS13174.1	.	.	.	.	.	.	.	.	.	.	.	17.95	3.512867	0.64522	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000538750	T;T;T	0.23754	1.89;1.89;1.89	1.13	0.105	0.14535	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.56746	0.2006	H	0.96111	3.77	0.27992	N	0.935622	D;D	0.76494	0.999;0.999	D;D	0.72338	0.977;0.977	T	0.47484	-0.9114	9	0.87932	D	0	.	5.5044	0.16846	0.0:0.7849:0.0:0.2151	.	602;634	B4DSM2;Q9Y3M9	.;ZN337_HUMAN	W	634;634;602	ENSP00000365619:G634W;ENSP00000252979:G634W;ENSP00000442181:G602W	ENSP00000252979:G634W	G	-	1	0	ZNF337	25604024	1.000000	0.71417	0.007000	0.13788	0.971000	0.66376	3.568000	0.53820	0.044000	0.15775	0.298000	0.19748	GGG		0.502	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1		
BCL2L1	598	broad.mit.edu	37	20	30253807	30253807	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr20:30253807G>A	ENST00000307677.4	-	3	1057	c.647C>T	c.(646-648)aCg>aTg	p.T216M	BCL2L1_ENST00000376062.2_Missense_Mutation_p.T216M|BCL2L1_ENST00000420653.1_Missense_Mutation_p.T216M|BCL2L1_ENST00000376055.4_Missense_Mutation_p.T153M	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	BCL2-like 1	216					apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process in bone marrow (GO:0071839)|cell proliferation (GO:0008283)|cellular process regulating host cell cycle in response to virus (GO:0060154)|cellular response to alkaloid (GO:0071312)|cellular response to amino acid stimulus (GO:0071230)|cellular response to gamma radiation (GO:0071480)|cytokinesis (GO:0000910)|endocytosis (GO:0006897)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fertilization (GO:0009566)|germ cell development (GO:0007281)|growth (GO:0040007)|hepatocyte apoptotic process (GO:0097284)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male gonad development (GO:0008584)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|release of cytochrome c from mitochondria (GO:0001836)|response to cycloheximide (GO:0046898)|response to cytokine (GO:0034097)|spermatogenesis (GO:0007283)|suppression by virus of host apoptotic process (GO:0019050)	Bcl-2 family protein complex (GO:0097136)|cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synapse (GO:0045202)	BH3 domain binding (GO:0051434)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.T216M(1)		breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			AGTCATGCCCGTCAGGAACCA	0.577																																					p.T216M	Colon(51;693 1004 1401 20431 21026)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C647T	20						.						109.0	86.0	94.0					20																	30253807		2203	4300	6503	29717468	SO:0001583	missense	598	exon3			Z23115	CCDS13188.1, CCDS13189.1	20q11.21	2014-03-07			ENSG00000171552	ENSG00000171552		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	992	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 52"""	600039				8358789	Standard	NM_001191		Approved	BCLX, BCL2L, Bcl-X, bcl-xL, bcl-xS, PPP1R52	uc002wwl.3	Q07817	OTTHUMG00000032192	ENST00000307677.4:c.647C>T	20.37:g.30253807G>A	ENSP00000302564:p.Thr216Met		29717468	NM_138578	E1P5L6|Q5CZ89|Q5TE65|Q92976	Missense_Mutation	SNP	ENST00000307677.4	37	CCDS13189.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190873	0.58017	.	.	ENSG00000171552	ENST00000376062;ENST00000376055;ENST00000307677;ENST00000420653	T;T;T;T	0.49139	2.72;0.79;2.72;2.72	4.88	2.94	0.34122	.	.	.	.	.	T	0.43211	0.1237	L	0.36672	1.1	0.32701	N	0.512851	B;D	0.61697	0.005;0.99	B;P	0.49799	0.0;0.622	T	0.54906	-0.8223	9	0.66056	D	0.02	0.5989	7.4211	0.27073	0.1966:0.0:0.8034:0.0	.	153;216	Q5TE63;Q07817	.;B2CL1_HUMAN	M	216;153;216;216	ENSP00000365230:T216M;ENSP00000365223:T153M;ENSP00000302564:T216M;ENSP00000405563:T216M	ENSP00000302564:T216M	T	-	2	0	BCL2L1	29717468	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.489000	0.60309	0.654000	0.30846	-0.300000	0.09419	ACG		0.577	BCL2L1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078575.1	NM_138578	
SRC	6714	broad.mit.edu	37	20	36024647	36024647	+	Silent	SNP	C	C	T	rs150488614	byFrequency	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr20:36024647C>T	ENST00000373578.2	+	8	985	c.636C>T	c.(634-636)agC>agT	p.S212S	SRC_ENST00000373558.2_Silent_p.S218S|SRC_ENST00000373567.2_Silent_p.S212S|SRC_ENST00000445403.1_Silent_p.S212S|SRC_ENST00000360723.4_Silent_p.S218S|SRC_ENST00000358208.4_Silent_p.S212S	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	SRC proto-oncogene, non-receptor tyrosine kinase	212	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cellular response to progesterone stimulus (GO:0071393)|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)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|membrane organization (GO:0061024)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of protein homooligomerization (GO:0032463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oogenesis (GO:0048477)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of integrin activation (GO:0033625)|positive regulation of podosome assembly (GO:0071803)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone receptor signaling pathway (GO:0050847)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of bone resorption (GO:0045124)|regulation of caveolin-mediated endocytosis (GO:2001286)|regulation of cell-cell adhesion (GO:0022407)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of epithelial cell migration (GO:0010632)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of protein binding (GO:0043393)|regulation of vascular permeability (GO:0043114)|response to interleukin-1 (GO:0070555)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|T cell costimulation (GO:0031295)|transforming growth factor beta receptor signaling pathway (GO:0007179)|uterus development (GO:0060065)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|growth factor receptor binding (GO:0070851)|heme binding (GO:0020037)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)	p.S212S(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Bosutinib(DB06616)|Dasatinib(DB01254)|Ponatinib(DB08901)	AGCTGGACAGCGGCGGCTTCT	0.647													C|||	2	0.000399361	0.0	0.0	5008	,	,		14508	0.0		0.001	False		,,,				2504	0.001				p.S212S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C636T	20						.	C	,	0,4406		0,0,2203	79.0	75.0	76.0		636,636	-8.4	0.4	20	dbSNP_134	76	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SRC	NM_005417.3,NM_198291.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	212/537,212/537	36024647	1,13005	2203	4300	6503	35458061	SO:0001819	synonymous_variant	6714	exon8			AF077754	CCDS13294.1	20q12-q13	2014-06-25	2014-06-25		ENSG00000197122	ENSG00000197122		"""SH2 domain containing"""	11283	protein-coding gene	gene with protein product		190090	"""v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog"""	SRC1		2582238	Standard	NM_005417		Approved	ASV, c-src	uc002xgy.3	P12931	OTTHUMG00000032417	ENST00000373578.2:c.636C>T	20.37:g.36024647C>T			35458061	NM_005417	E1P5V4|Q76P87|Q86VB9|Q9H5A8	Silent	SNP	ENST00000373578.2	37	CCDS13294.1																																																																																				0.647	SRC-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268142.1	NM_005417	
RALGAPB	57148	broad.mit.edu	37	20	37169730	37169730	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr20:37169730G>T	ENST00000262879.6	+	18	2893	c.2609G>T	c.(2608-2610)gGa>gTa	p.G870V	RALGAPB_ENST00000397038.1_Missense_Mutation_p.G648V|RALGAPB_ENST00000397042.3_Missense_Mutation_p.G866V|RALGAPB_ENST00000397040.1_Missense_Mutation_p.G870V			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	870					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.G870V(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GGTATCTCAGGAAGTAAGTCC	0.443																																					p.G870V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2609T	20						.						172.0	154.0	160.0					20																	37169730		2203	4300	6503	36603144	SO:0001583	missense	57148	exon18			AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.2609G>T	20.37:g.37169730G>T	ENSP00000262879:p.Gly870Val		36603144	NM_020336	A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977686	0.92982	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.82637	0.5080	M	0.75615	2.305	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;0.999;0.999	D	0.84095	0.0392	9	0.87932	D	0	.	19.5739	0.95434	0.0:0.0:1.0:0.0	.	698;870;866;870	A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	V	870;866;870;648;870;698	.	ENSP00000262879:G870V	G	+	2	0	RALGAPB	36603144	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.813000	0.99286	2.691000	0.91804	0.563000	0.77884	GGA		0.443	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336	
TOP1	7150	broad.mit.edu	37	20	39708807	39708807	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr20:39708807C>T	ENST00000361337.2	+	6	668	c.418C>T	c.(418-420)Cga>Tga	p.R140*		NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	140	Lys-rich.				chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|DNA topological change (GO:0006265)|embryonic cleavage (GO:0040016)|phosphorylation (GO:0016310)|programmed cell death (GO:0012501)|response to drug (GO:0042493)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|replication fork protection complex (GO:0031298)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|poly(A) RNA binding (GO:0044822)	p.R140*(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Sodium stibogluconate(DB05630)|Topotecan(DB01030)	AAAGAGACCTCGAGATGAGGA	0.303			T	NUP98	AML*																																p.R140X			Dom	yes		20	20q12-q13.1	7150	topoisomerase (DNA) I		L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C418T	20						.						67.0	65.0	66.0					20																	39708807		2203	4299	6502	39142221	SO:0001587	stop_gained	7150	exon6				CCDS13312.1	20q12-q13.1	1990-06-22			ENSG00000198900	ENSG00000198900	5.99.1.2		11986	protein-coding gene	gene with protein product		126420					Standard	NM_003286		Approved		uc010ggd.1	P11387	OTTHUMG00000033057	ENST00000361337.2:c.418C>T	20.37:g.39708807C>T	ENSP00000354522:p.Arg140*		39142221	NM_003286	A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Nonsense_Mutation	SNP	ENST00000361337.2	37	CCDS13312.1	.	.	.	.	.	.	.	.	.	.	C	38	6.916458	0.97932	.	.	ENSG00000198900	ENST00000361337	.	.	.	5.62	4.67	0.58626	.	0.057755	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.7933	13.1326	0.59391	0.1606:0.8394:0.0:0.0	.	.	.	.	X	140	.	ENSP00000354522:R140X	R	+	1	2	TOP1	39142221	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.941000	0.49011	1.344000	0.45657	0.650000	0.86243	CGA		0.303	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080397.2		
CHD6	84181	broad.mit.edu	37	20	40162045	40162045	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr20:40162045C>A	ENST00000373233.3	-	3	375	c.198G>T	c.(196-198)gaG>gaT	p.E66D	CHD6_ENST00000309279.7_Missense_Mutation_p.E66D|CHD6_ENST00000373222.3_Missense_Mutation_p.E101D	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	66	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.E66D(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)				TAGCAGCTTCCTCTTCAGCAG	0.458																																					p.E66D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G198T	20						.						112.0	103.0	106.0					20																	40162045		2203	4300	6503	39595459	SO:0001583	missense	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.198G>T	20.37:g.40162045C>A	ENSP00000362330:p.Glu66Asp		39595459	NM_032221	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.476503	0.26511	.	.	ENSG00000124177	ENST00000373233;ENST00000309279;ENST00000373222;ENST00000440647	D;D;D	0.95069	-2.12;-3.6;-1.5	4.63	1.55	0.23275	.	0.111716	0.39909	N	0.001233	D	0.92466	0.7608	L	0.29908	0.895	0.37611	D	0.920946	D;P	0.58620	0.983;0.89	P;B	0.57720	0.826;0.253	D	0.90241	0.4286	10	0.45353	T	0.12	-17.5879	8.0205	0.30406	0.0:0.7206:0.132:0.1475	.	101;66	Q8TD26-2;Q8TD26	.;CHD6_HUMAN	D	66;66;101;66	ENSP00000362330:E66D;ENSP00000308684:E66D;ENSP00000362319:E101D	ENSP00000308684:E66D	E	-	3	2	CHD6	39595459	1.000000	0.71417	1.000000	0.80357	0.342000	0.28953	0.778000	0.26732	0.244000	0.21351	0.650000	0.86243	GAG		0.458	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1		
PTPRT	11122	broad.mit.edu	37	20	40710654	40710654	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr20:40710654A>C	ENST00000373187.1	-	30	4139	c.4140T>G	c.(4138-4140)aaT>aaG	p.N1380K	PTPRT_ENST00000373198.4_Missense_Mutation_p.N1399K|PTPRT_ENST00000373190.1_Missense_Mutation_p.N1379K|PTPRT_ENST00000373193.3_Missense_Mutation_p.N1383K|PTPRT_ENST00000373184.1_Missense_Mutation_p.N1390K|PTPRT_ENST00000356100.2_Missense_Mutation_p.N1389K|PTPRT_ENST00000373201.1_Missense_Mutation_p.N1370K			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1380	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.N1402K(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGCCTCCCCCATTTCTAAACA	0.493																																					p.N1399K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4197G	20						.						108.0	106.0	107.0					20																	40710654		2045	4211	6256	40144068	SO:0001583	missense	11122	exon31			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.4140T>G	20.37:g.40710654A>C	ENSP00000362283:p.Asn1380Lys		40144068	NM_133170	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	A	10.14	1.269022	0.23221	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54;2.54;2.54	6.07	-1.71	0.08133	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.050924	0.85682	D	0.000000	T	0.28400	0.0702	M	0.88906	2.99	0.53005	D	0.999964	P;P	0.41008	0.735;0.661	B;P	0.46389	0.381;0.515	T	0.41106	-0.9527	10	0.87932	D	0	.	14.322	0.66491	0.5671:0.0:0.4329:0.0	.	1402;1380	O14522-1;O14522	.;PTPRT_HUMAN	K	1379;1380;1383;1389;1402;1390;1370	ENSP00000362286:N1379K;ENSP00000362283:N1380K;ENSP00000362289:N1383K;ENSP00000348408:N1389K;ENSP00000362294:N1402K;ENSP00000362280:N1390K;ENSP00000362297:N1370K	ENSP00000348408:N1389K	N	-	3	2	PTPRT	40144068	0.001000	0.12720	0.974000	0.42286	0.163000	0.22366	-1.134000	0.03228	-0.676000	0.05238	-1.676000	0.00740	AAT		0.493	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1		
PTPRT	11122	broad.mit.edu	37	20	40748593	40748593	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr20:40748593G>A	ENST00000373187.1	-	20	2865	c.2866C>T	c.(2866-2868)Cac>Tac	p.H956Y	PTPRT_ENST00000373198.4_Missense_Mutation_p.H975Y|PTPRT_ENST00000373190.1_Missense_Mutation_p.H955Y|PTPRT_ENST00000373193.3_Missense_Mutation_p.H959Y|PTPRT_ENST00000373184.1_Missense_Mutation_p.H946Y|PTPRT_ENST00000356100.2_Missense_Mutation_p.H965Y|PTPRT_ENST00000373201.1_Missense_Mutation_p.H946Y			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	956	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.H978Y(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCAATGTAGTGCCGAGGTCGA	0.498																																					p.H975Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2923T	20						.						132.0	132.0	132.0					20																	40748593		1918	4132	6050	40182007	SO:0001583	missense	11122	exon21			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.2866C>T	20.37:g.40748593G>A	ENSP00000362283:p.His956Tyr		40182007	NM_133170	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261070	0.59431	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54;1.54	5.6	5.6	0.85130	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.052657	0.85682	D	0.000000	T	0.27559	0.0677	L	0.39633	1.23	0.80722	D	1	B;B	0.18741	0.024;0.03	B;B	0.17433	0.015;0.018	T	0.03945	-1.0990	10	0.62326	D	0.03	.	12.8971	0.58106	0.0743:0.0:0.9257:0.0	.	978;956	O14522-1;O14522	.;PTPRT_HUMAN	Y	955;956;959;965;978;946;946	ENSP00000362286:H955Y;ENSP00000362283:H956Y;ENSP00000362289:H959Y;ENSP00000348408:H965Y;ENSP00000362294:H978Y;ENSP00000362280:H946Y;ENSP00000362297:H946Y	ENSP00000348408:H965Y	H	-	1	0	PTPRT	40182007	1.000000	0.71417	0.991000	0.47740	0.976000	0.68499	7.988000	0.88194	2.631000	0.89168	0.655000	0.94253	CAC		0.498	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1		
WFDC12	128488	broad.mit.edu	37	20	43752514	43752514	+	Silent	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr20:43752514G>A	ENST00000372785.3	-	3	326	c.309C>T	c.(307-309)tcC>tcT	p.S103S		NM_080869.1	NP_543145.1	Q8WWY7	WFD12_HUMAN	WAP four-disulfide core domain 12	103					defense response to bacterium (GO:0042742)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S103S(1)		endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6		Myeloproliferative disorder(115;0.0122)				TGGTAGAGGAggagcctggac	0.537																																					p.S103S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C309T	20						.						149.0	125.0	133.0					20																	43752514		2203	4300	6503	43185928	SO:0001819	synonymous_variant	128488	exon3			Z93016	CCDS13343.1	20q13.12	2013-01-21	2003-02-21	2003-02-21	ENSG00000168703	ENSG00000168703		"""WAP four-disulfide core domain containing"""	16115	protein-coding gene	gene with protein product		609872	"""chromosome 20 open reading frame 122"""	C20orf122		11779191, 12206714	Standard	NM_080869		Approved	dJ211D12.4, WAP2	uc002xnf.1	Q8WWY7	OTTHUMG00000046412	ENST00000372785.3:c.309C>T	20.37:g.43752514G>A			43185928	NM_080869	Q5H980|Q9BR31	Silent	SNP	ENST00000372785.3	37	CCDS13343.1																																																																																				0.537	WFDC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000107194.1		
PREX1	57580	broad.mit.edu	37	20	47259004	47259004	+	Silent	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr20:47259004G>T	ENST00000371941.3	-	28	3647	c.3625C>A	c.(3625-3627)Cgg>Agg	p.R1209R	PREX1_ENST00000396220.1_Silent_p.R1209R|PREX1_ENST00000496915.1_5'UTR	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1209					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.R1209R(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)			GATGGGATCCGCATGTCACAG	0.572																																					p.R1209R												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3625A	20						.						74.0	68.0	70.0					20																	47259004		2203	4300	6503	46692411	SO:0001819	synonymous_variant	57580	exon28			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.3625C>A	20.37:g.47259004G>T			46692411	NM_020820	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Silent	SNP	ENST00000371941.3	37	CCDS13410.1																																																																																				0.572	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820	
PREX1	57580	broad.mit.edu	37	20	47266081	47266081	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr20:47266081C>T	ENST00000371941.3	-	25	3084	c.3062G>A	c.(3061-3063)tGc>tAc	p.C1021Y	PREX1_ENST00000396220.1_Missense_Mutation_p.C1021Y	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1021					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.C1021Y(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)			GGTGGTGATGCAGTGCTGGGT	0.617																																					p.C1021Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3062A	20						.						60.0	46.0	51.0					20																	47266081		2203	4300	6503	46699488	SO:0001583	missense	57580	exon25			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.3062G>A	20.37:g.47266081C>T	ENSP00000361009:p.Cys1021Tyr		46699488	NM_020820	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.210944	0.58343	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.62639	0.01;0.01	4.74	4.74	0.60224	.	0.000000	0.64402	U	0.000011	T	0.76779	0.4035	L	0.60455	1.87	0.53688	D	0.999976	D;D	0.89917	0.995;1.0	P;D	0.91635	0.862;0.999	T	0.79526	-0.1767	10	0.66056	D	0.02	.	17.7509	0.88434	0.0:1.0:0.0:0.0	.	1021;318	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	Y	1021	ENSP00000361009:C1021Y;ENSP00000379522:C1021Y	ENSP00000361009:C1021Y	C	-	2	0	PREX1	46699488	1.000000	0.71417	0.995000	0.50966	0.713000	0.41058	3.324000	0.52022	2.169000	0.68431	0.655000	0.94253	TGC		0.617	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820	
CSE1L	1434	broad.mit.edu	37	20	47710757	47710757	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr20:47710757C>T	ENST00000262982.2	+	23	2651	c.2528C>T	c.(2527-2529)gCg>gTg	p.A843V	CSE1L_ENST00000396192.3_Missense_Mutation_p.A787V|CSE1L_ENST00000542325.1_Missense_Mutation_p.A626V|CSE1L_ENST00000469700.1_3'UTR	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	843					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)	p.A843V(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			AAGATCTGTGCGGTTGGCATA	0.318																																					p.A843V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2528T	20						.						89.0	86.0	87.0					20																	47710757		2203	4300	6503	47144164	SO:0001583	missense	1434	exon23			U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"""Exportins"""	2431	protein-coding gene	gene with protein product	"""cellular apoptosis susceptibility"""	601342	"""chromosome segregation 1 (yeast homolog)-like"""			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.2528C>T	20.37:g.47710757C>T	ENSP00000262982:p.Ala843Val		47144164	NM_001316	A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	ENST00000262982.2	37	CCDS13412.1	.	.	.	.	.	.	.	.	.	.	C	32	5.156034	0.94686	.	.	ENSG00000124207	ENST00000417408;ENST00000262982;ENST00000542325;ENST00000396192	T;T;T	0.66099	-0.19;-0.19;-0.19	5.22	5.22	0.72569	Armadillo-like helical (1);Armadillo-type fold (1);CAS/CSE, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.62208	0.2409	L	0.41632	1.29	0.80722	D	1	D;D;B;P;D	0.63880	0.965;0.988;0.448;0.938;0.993	B;P;B;P;P	0.52109	0.441;0.598;0.153;0.511;0.69	T	0.56159	-0.8025	10	0.07644	T	0.81	-12.2506	19.1636	0.93544	0.0:1.0:0.0:0.0	.	532;626;787;787;843	F5GX54;B4DUC5;A3RLL6;F8W904;P55060	.;.;.;.;XPO2_HUMAN	V	441;843;626;787	ENSP00000262982:A843V;ENSP00000446477:A626V;ENSP00000379495:A787V	ENSP00000262982:A843V	A	+	2	0	CSE1L	47144164	1.000000	0.71417	0.973000	0.42090	0.996000	0.88848	7.445000	0.80570	2.590000	0.87494	0.655000	0.94253	GCG		0.318	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2	NM_001316	
CHGB	1114	broad.mit.edu	37	20	5897522	5897522	+	Silent	SNP	C	C	T	rs201703215		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr20:5897522C>T	ENST00000378961.4	+	3	351	c.147C>T	c.(145-147)agC>agT	p.S49S	CHGB_ENST00000488832.1_3'UTR	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	49						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)	p.S49S(1)		breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CGAAGTCCAGCGCTCCACCCA	0.557													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19499	0.0		0.0	False		,,,				2504	0.0				p.S49S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C147T	20						.						146.0	113.0	124.0					20																	5897522		2203	4300	6503	5845522	SO:0001819	synonymous_variant	1114	exon3				CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.147C>T	20.37:g.5897522C>T			5845522	NM_001819	A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Silent	SNP	ENST00000378961.4	37	CCDS13092.1																																																																																				0.557	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819	
FAM209B	388799	broad.mit.edu	37	20	55111329	55111329	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr20:55111329C>T	ENST00000371325.1	+	2	447	c.351C>T	c.(349-351)aaC>aaT	p.N117N		NM_001013646.2	NP_001013668.2	Q5JX69	F209B_HUMAN	family with sequence similarity 209, member B	117						integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.N117N(1)									ATACCTTAAACGAACTTGAAG	0.443																																					p.N117N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C351T	20						.						97.0	96.0	96.0					20																	55111329		2203	4300	6503	54544736	SO:0001819	synonymous_variant	388799	exon2			AL109806	CCDS33494.1	20q13.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000213714	ENSG00000213714			16101	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 107"""	C20orf107			Standard	NM_001013646		Approved	dJ1153D9.4	uc002xxz.4	Q5JX69	OTTHUMG00000032800	ENST00000371325.1:c.351C>T	20.37:g.55111329C>T			54544736	NM_001013646	Q3KRB5	Silent	SNP	ENST00000371325.1	37	CCDS33494.1																																																																																				0.443	FAM209B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079816.1		
ANKEF1	63926	broad.mit.edu	37	20	10019237	10019237	+	Silent	SNP	A	A	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr20:10019237A>C	ENST00000378380.3	+	2	617	c.288A>C	c.(286-288)tcA>tcC	p.S96S	ANKEF1_ENST00000378392.1_Silent_p.S96S|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	96							calcium ion binding (GO:0005509)	p.S96S(1)									ATGAATTGTCAATGGAAATAT	0.448																																					p.S96S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A288C	20						.						61.0	57.0	58.0					20																	10019237		2203	4300	6503	9967237	SO:0001819	synonymous_variant	63926	exon2			AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"""EF-hand domain containing"", ""Ankyrin repeat domain containing"""	15803	protein-coding gene	gene with protein product			"""ankyrin repeat domain 5"""	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.288A>C	20.37:g.10019237A>C			9967237	NM_198798	B3KUQ0|Q9H6Y9	Silent	SNP	ENST00000378380.3	37	CCDS13108.1																																																																																				0.448	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2	NM_022096	
TTI1	9675	broad.mit.edu	37	20	36627613	36627613	+	Frame_Shift_Del	DEL	G	G	-	rs149568606		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr20:36627613delG	ENST00000373448.2	-	6	3008	c.2770delC	c.(2770-2772)ctgfs	p.L924fs	TTI1_ENST00000449821.1_Frame_Shift_Del_p.L924fs|TTI1_ENST00000373447.3_Frame_Shift_Del_p.L924fs	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	924					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)		p.L924fs*37(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						AGCACTGCCAGGGGGGCGTCC	0.577																																					p.L924fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2770delC	20						.						76.0	73.0	74.0					20																	36627613		2203	4300	6503	36061027	SO:0001589	frameshift_variant	9675	exon6			BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.2770delC	20.37:g.36627613delG	ENSP00000362547:p.Leu924fs		36061027	NM_014657	D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Frame_Shift_Del	DEL	ENST00000373448.2	37	CCDS13300.1																																																																																				0.577	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657	
RBPJL	11317	broad.mit.edu	37	20	43941023	43941023	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr20:43941023delA	ENST00000343694.3	+	6	679	c.607delA	c.(607-609)aaafs	p.K203fs	RBPJL_ENST00000372741.3_Frame_Shift_Del_p.K203fs|RBPJL_ENST00000372743.1_Frame_Shift_Del_p.K203fs	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	203					positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N204fs*86(1)		NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				GCAGTCGCTGAAAAACACCGA	0.677																																					p.K203fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.607delA	20						.						23.0	25.0	24.0					20																	43941023		2203	4300	6503	43374437	SO:0001589	frameshift_variant	11317	exon6			AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"""recombining binding protein suppressor of hairless (Drosophila)-like"""	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.607delA	20.37:g.43941023delA	ENSP00000341243:p.Lys203fs		43374437	NM_014276	O95723|Q5QPU9|Q5QPV0|Q9ULV9	Frame_Shift_Del	DEL	ENST00000343694.3	37	CCDS13349.1																																																																																				0.677	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080391.1	NM_014276	
ZNF217	7764	broad.mit.edu	37	20	52194917	52194917	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr20:52194917delA	ENST00000371471.2	-	3	1864	c.1439delT	c.(1438-1440)ttcfs	p.F480fs	ZNF217_ENST00000302342.3_Frame_Shift_Del_p.F480fs			O75362	ZN217_HUMAN	zinc finger protein 217	480					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.F480fs*35(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			ATTTGAACGGAAAAACTTTCC	0.254																																					p.F480fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1439delT	20						.						78.0	77.0	78.0					20																	52194917		2202	4293	6495	51628324	SO:0001589	frameshift_variant	7764	exon2			AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.1439delT	20.37:g.52194917delA	ENSP00000360526:p.Phe480fs		51628324	NM_006526	E1P5Y6|Q14DB8	Frame_Shift_Del	DEL	ENST00000371471.2	37	CCDS13443.1																																																																																				0.254	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526	
PSMA7	5688	broad.mit.edu	37	20	60714182	60714182	+	Silent	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr20:60714182G>T	ENST00000370873.4	-	4	546	c.420C>A	c.(418-420)ggC>ggA	p.G140G	PSMA7_ENST00000370861.1_Silent_p.G70G|PSMA7_ENST00000484488.1_5'UTR	NM_002792.3	NP_002783.1	O14818	PSA7_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 7	140					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)	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)	identical protein binding (GO:0042802)|threonine-type endopeptidase activity (GO:0004298)			large_intestine(1)|lung(2)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			GCCTAGGAGTGCCATCAAAGT	0.532																																					p.G140G												.	.	0			c.C420A	20						.						114.0	108.0	110.0					20																	60714182		2203	4300	6503	60147577	SO:0001819	synonymous_variant	5688	exon4			AF022815	CCDS13489.1	20q13.33	2008-07-02			ENSG00000101182	ENSG00000101182		"""Proteasome (prosome, macropain) subunits"""	9536	protein-coding gene	gene with protein product	"""proteasome subunit XAPC7"", ""proteasome subunit RC6-1"""	606607				8764072	Standard	NM_002792		Approved	XAPC7, C6, HSPC, RC6-1	uc002ybx.2	O14818	OTTHUMG00000032895	ENST00000370873.4:c.420C>A	20.37:g.60714182G>T			60147577	NM_002792	B2R515|Q5JXJ2|Q9BR53|Q9H4K5|Q9UEU8	Silent	SNP	ENST00000370873.4	37	CCDS13489.1	.	.	.	.	.	.	.	.	.	.	.	10.50	1.368819	0.24771	.	.	ENSG00000101182	ENST00000442551	.	.	.	5.19	0.349	0.16032	.	.	.	.	.	T	0.41994	0.1183	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26121	-1.0112	4	.	.	.	.	1.4225	0.02315	0.2348:0.1851:0.4111:0.169	.	.	.	.	E	66	.	.	A	-	2	0	PSMA7	60147577	0.999000	0.42202	1.000000	0.80357	0.966000	0.64601	0.472000	0.22116	0.204000	0.20548	0.491000	0.48974	GCA		0.532	PSMA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079975.1	NM_002792	
TIAM1	7074	broad.mit.edu	37	21	32508252	32508252	+	Splice_Site	SNP	G	G	A	rs567504389		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr21:32508252G>A	ENST00000286827.3	-	24	4353	c.3882C>T	c.(3880-3882)ttC>ttT	p.F1294F	TIAM1_ENST00000541036.1_Splice_Site_p.F1234F	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1294	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.F1294F(4)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GATACACACCGAATGCTGCCA	0.448													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16872	0.0		0.0	False		,,,				2504	0.0				p.F1294F												.	.	4	Substitution - coding silent(4)	large_intestine(4)	c.C3882T	21						.						106.0	100.0	102.0					21																	32508252		2203	4300	6503	31430123	SO:0001630	splice_region_variant	7074	exon24				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.3883+1C>T	21.37:g.32508252G>A			31430123	NM_003253	B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	ENST00000286827.3	37	CCDS13609.1																																																																																				0.448	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253	Silent
SCAF4	57466	broad.mit.edu	37	21	33044507	33044507	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr21:33044507C>T	ENST00000286835.7	-	20	3031	c.2649G>A	c.(2647-2649)ccG>ccA	p.P883P	SCAF4_ENST00000434667.3_Silent_p.P868P|SCAF4_ENST00000399804.1_Silent_p.P861P	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	883						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P883P(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						GCATCATGTGCGGTGGCATGG	0.642																																					p.P868P												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.G2604A	21						.						66.0	64.0	65.0					21																	33044507		2203	4300	6503	31966378	SO:0001819	synonymous_variant	57466	exon19			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.2649G>A	21.37:g.33044507C>T			31966378	NM_001145444	C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Silent	SNP	ENST00000286835.7	37	CCDS33537.1																																																																																				0.642	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889	
TTC3	7267	broad.mit.edu	37	21	38568194	38568194	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr21:38568194G>T	ENST00000399017.2	+	42	8183	c.5436G>T	c.(5434-5436)caG>caT	p.Q1812H	TTC3-AS1_ENST00000424733.1_RNA|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Missense_Mutation_p.Q1812H|TTC3_ENST00000355666.1_Missense_Mutation_p.Q1812H	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1812					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q1812H(1)		breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GGGCTGGCCAGGCAGCTCTGT	0.612																																					p.Q1812H	Ovarian(38;194 1649 35661)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5436T	21						.						37.0	40.0	39.0					21																	38568194		2203	4300	6503	37490064	SO:0001583	missense	7267	exon42			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.5436G>T	21.37:g.38568194G>T	ENSP00000381981:p.Gln1812His		37490064	NM_001001894	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	CCDS13651.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.32|10.32	1.316342|1.316342	0.23908|0.23908	.|.	.|.	ENSG00000182670|ENSG00000182670	ENST00000428693|ENST00000355666;ENST00000399017;ENST00000354749	.|T;T;T	.|0.09163	.|3.01;3.01;3.01	3.74|3.74	1.87|1.87	0.25490|0.25490	.|.	.|0.802597	.|0.11153	.|N	.|0.593901	T|T	0.16171|0.16171	0.0389|0.0389	M|M	0.62723|0.62723	1.935|1.935	0.20307|0.20307	N|N	0.999916|0.999916	.|P	.|0.46395	.|0.877	.|P	.|0.47470	.|0.548	T|T	0.13442|0.13442	-1.0509|-1.0509	5|10	.|0.66056	.|D	.|0.02	-3.4906|-3.4906	6.3324|6.3324	0.21276|0.21276	0.2379:0.0:0.7621:0.0|0.2379:0.0:0.7621:0.0	.|.	.|1812	.|P53804	.|TTC3_HUMAN	C|H	104|1812	.|ENSP00000347889:Q1812H;ENSP00000381981:Q1812H;ENSP00000346791:Q1812H	.|ENSP00000346791:Q1812H	G|Q	+|+	1|3	0|2	TTC3|TTC3	37490064|37490064	0.003000|0.003000	0.15002|0.15002	0.078000|0.078000	0.20375|0.20375	0.087000|0.087000	0.18053|0.18053	0.131000|0.131000	0.15870|0.15870	0.372000|0.372000	0.24591|0.24591	0.467000|0.467000	0.42956|0.42956	GGC|CAG		0.612	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1		
MX1	4599	broad.mit.edu	37	21	42813705	42813705	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr21:42813705C>T	ENST00000398600.2	+	12	1818	c.793C>T	c.(793-795)Cgg>Tgg	p.R265W	AP001610.5_ENST00000411427.1_RNA|MX1_ENST00000288383.6_Missense_Mutation_p.R242W|MX1_ENST00000398598.3_Missense_Mutation_p.R265W|MX1_ENST00000455164.2_Missense_Mutation_p.R265W	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	265	Dynamin-type G.|GTPase domain (Globular).				apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R265W(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GGACGTGGTGCGGAACCTCGT	0.557																																					p.R265W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C793T	21						.						183.0	169.0	174.0					21																	42813705		2203	4300	6503	41735575	SO:0001583	missense	4599	exon12				CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"""interferon-inducible protein p78"""	147150	"""myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)"", ""myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"""			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.793C>T	21.37:g.42813705C>T	ENSP00000381601:p.Arg265Trp		41735575	NM_001144925	B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Missense_Mutation	SNP	ENST00000398600.2	37	CCDS13673.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.123878	0.37436	.	.	ENSG00000157601	ENST00000398600;ENST00000398598;ENST00000455164;ENST00000288383	T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79	4.89	-0.852	0.10713	Dynamin, GTPase domain (1);Dynamin central domain (1);	0.338480	0.32640	N	0.005833	D	0.83949	0.5365	M	0.84948	2.725	0.09310	N	1	D	0.89917	1.0	D	0.72338	0.977	T	0.76493	-0.2939	10	0.87932	D	0	-10.2869	10.2299	0.43250	0.5195:0.3628:0.1177:0.0	.	265	P20591	MX1_HUMAN	W	265;265;265;242	ENSP00000381601:R265W;ENSP00000381599:R265W;ENSP00000410523:R265W;ENSP00000288383:R242W	ENSP00000288383:R242W	R	+	1	2	MX1	41735575	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	0.615000	0.24329	-0.255000	0.09486	0.655000	0.94253	CGG		0.557	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195161.2		
RIPK4	54101	broad.mit.edu	37	21	43161947	43161947	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr21:43161947C>T	ENST00000352483.2	-	9	1614	c.1550G>A	c.(1549-1551)cGt>cAt	p.R517H	RIPK4_ENST00000544709.1_Missense_Mutation_p.R406H|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000332512.3_Missense_Mutation_p.R469H|RIPK4_ENST00000542057.1_Missense_Mutation_p.R406H			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	517					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.R517H(1)|p.R469H(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						GGAGCCCCTACGGTTGCTCAG	0.657																																					p.R469H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1406A	21						.						94.0	91.0	92.0					21																	43161947		2203	4300	6503	42035016	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.1550G>A	21.37:g.43161947C>T	ENSP00000330161:p.Arg517His		42035016	NM_020639	Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	37		.	.	.	.	.	.	.	.	.	.	C	10.42	1.346492	0.24426	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057;ENST00000330470	T;T;T;T	0.16073	2.37;2.37;2.37;2.37	5.02	2.18	0.27775	.	0.439511	0.20790	N	0.085622	T	0.12475	0.0303	L	0.33245	0.995	0.09310	N	1	P	0.46064	0.872	P	0.44772	0.46	T	0.10823	-1.0613	10	0.42905	T	0.14	-23.0518	3.2787	0.06907	0.1785:0.4642:0.0:0.3573	.	469	P57078-2	.	H	469;517;406;406;208	ENSP00000332454:R469H;ENSP00000330161:R517H;ENSP00000441754:R406H;ENSP00000442901:R406H	ENSP00000330975:R208H	R	-	2	0	RIPK4	42035016	0.014000	0.17966	0.006000	0.13384	0.004000	0.04260	0.272000	0.18644	0.495000	0.27882	0.655000	0.94253	CGT		0.657	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639	
FAM3B	54097	broad.mit.edu	37	21	42694841	42694841	+	Intron	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr21:42694841T>C	ENST00000357985.2	+	2	165				FAM3B_ENST00000398646.3_Missense_Mutation_p.L27P|FAM3B_ENST00000398652.3_Intron|FAM3B_ENST00000398647.3_Intron|FAM3B_ENST00000479810.2_Intron	NM_058186.3	NP_478066.3	P58499	FAM3B_HUMAN	family with sequence similarity 3, member B						apoptotic process (GO:0006915)|insulin secretion (GO:0030073)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				CTTGGTGTCCTCTCTGCAGGC	0.632																																					.												.	.	0			.	21						.						177.0	133.0	148.0					21																	42694841		2203	4300	6503	41616711	SO:0001627	intron_variant	54097	.			AF494379	CCDS13671.1, CCDS42930.1	21q22.3	2014-08-14	2002-05-23	2002-06-20	ENSG00000183844	ENSG00000183844			1253	protein-coding gene	gene with protein product	"""pancreatic-derived factor"""	608617	"""chromosome 21 open reading frame 11"""	C21orf11			Standard	NM_058186		Approved	D21M16SJHU19e, PRED44, 2-21, ORF9, C21orf76, PANDER	uc002yzb.1	P58499	OTTHUMG00000086752	ENST00000357985.2:c.20-9T>C	21.37:g.42694841T>C			41616711	.		Missense_Mutation	SNP	ENST00000357985.2	37	CCDS13671.1	.	.	.	.	.	.	.	.	.	.	T	13.66	2.302923	0.40795	.	.	ENSG00000183844	ENST00000398646	T	0.55588	0.51	4.37	-1.03	0.10102	.	.	.	.	.	T	0.53834	0.1821	.	.	.	0.09310	N	1	P	0.52061	0.95	P	0.53809	0.735	T	0.46652	-0.9176	8	0.62326	D	0.03	.	4.2361	0.10627	0.0:0.2901:0.1713:0.5386	.	27	A8MTF8	.	P	27	ENSP00000381641:L27P	ENSP00000381641:L27P	L	+	2	0	FAM3B	41616711	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.184000	0.16939	-0.365000	0.08076	-1.259000	0.01468	CTC		0.632	FAM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195142.1	NM_058186	
KRTAP10-6	386674	broad.mit.edu	37	21	46011332	46011332	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr21:46011332C>T	ENST00000400368.1	-	1	1054	c.1034G>A	c.(1033-1035)tGc>tAc	p.C345Y	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	345						keratin filament (GO:0045095)		p.C345Y(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						CATGGGGCGGCAGAGGAGGGA	0.672																																					p.C345Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1034A	21						.						45.0	57.0	53.0					21																	46011332		2199	4300	6499	44835760	SO:0001583	missense	386674	exon1			AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"""Keratin associated proteins"""	20523	protein-coding gene	gene with protein product			"""keratin associated protein 18-6"""	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.1034G>A	21.37:g.46011332C>T	ENSP00000383219:p.Cys345Tyr		44835760	NM_198688		Missense_Mutation	SNP	ENST00000400368.1	37	CCDS42959.1	.	.	.	.	.	.	.	.	.	.	c	9.232	1.036120	0.19590	.	.	ENSG00000188155	ENST00000400368	T	0.01165	5.24	2.84	2.84	0.33178	.	.	.	.	.	T	0.04907	0.0132	M	0.76727	2.345	0.28444	N	0.916675	D	0.89917	1.0	D	0.87578	0.998	T	0.18398	-1.0338	9	0.49607	T	0.09	.	5.7875	0.18340	0.0:0.8469:0.0:0.1531	.	345	P60371	KR106_HUMAN	Y	345	ENSP00000383219:C345Y	ENSP00000383219:C345Y	C	-	2	0	KRTAP10-6	44835760	0.891000	0.30450	1.000000	0.80357	0.036000	0.12997	1.173000	0.31920	1.588000	0.49971	0.205000	0.17691	TGC		0.672	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688	
SMTN	6525	broad.mit.edu	37	22	31487710	31487711	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr22:31487710_31487711insG	ENST00000347557.2	+	11	1727_1728	c.1509_1510insG	c.(1510-1512)gggfs	p.G504fs	SMTN_ENST00000333137.7_Frame_Shift_Ins_p.G504fs|SMTN_ENST00000404574.1_5'Flank|SMTN_ENST00000358743.1_Frame_Shift_Ins_p.G504fs	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	504					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)	p.K506fs*32(1)|p.K498fs*32(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GCACCAGTAGTGGGGGCAAGAG	0.644																																					p.S503fs												.	.	2	Insertion - Frameshift(2)	large_intestine(2)	c.1509_1510insG	22						.																																			29817711	SO:0001589	frameshift_variant	6525	exon11			AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.1514dupG	22.37:g.31487715_31487715dupG	ENSP00000328635:p.Gly504fs		29817710	NM_006932	O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Frame_Shift_Ins	INS	ENST00000347557.2	37	CCDS13886.1																																																																																				0.644	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270	
CCT8L2	150160	broad.mit.edu	37	22	17072504	17072504	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr22:17072504C>T	ENST00000359963.3	-	1	1196	c.937G>A	c.(937-939)Gtg>Atg	p.V313M		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	313					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)	p.V313M(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TGAATCACCACGATGCCATAC	0.557																																					p.V313M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G937A	22						.						197.0	174.0	182.0					22																	17072504		2203	4300	6503	15452504	SO:0001583	missense	150160	exon1			AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.937G>A	22.37:g.17072504C>T	ENSP00000353048:p.Val313Met		15452504	NM_014406	A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	c	0.001	-3.124215	0.00031	.	.	ENSG00000198445	ENST00000359963	T	0.74421	-0.84	1.98	0.869	0.19096	.	0.138719	0.32719	N	0.005730	T	0.26738	0.0654	N	0.00121	-2.07	0.21256	N	0.999747	B	0.17667	0.023	B	0.06405	0.002	T	0.42515	-0.9447	10	0.15499	T	0.54	-26.8196	3.695	0.08361	0.0:0.2182:0.0:0.7818	.	313	Q96SF2	TCPQM_HUMAN	M	313	ENSP00000353048:V313M	ENSP00000353048:V313M	V	-	1	0	CCT8L2	15452504	0.985000	0.35326	0.959000	0.39883	0.033000	0.12548	0.049000	0.14099	0.063000	0.16370	-0.552000	0.04208	GTG		0.557	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1		
CECR1	51816	broad.mit.edu	37	22	17662736	17662736	+	Silent	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr22:17662736G>T	ENST00000399839.1	-	9	1686	c.1416C>A	c.(1414-1416)ctC>ctA	p.L472L	CECR1_ENST00000449907.2_Silent_p.L430L|CECR1_ENST00000262607.3_Silent_p.L472L|CECR1_ENST00000399837.2_Silent_p.L472L|CECR1_ENST00000330232.4_Silent_p.L231L	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	472					adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)	p.L472L(1)		endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				CCAGCTGTTTGAGGGTCCTCA	0.552																																					p.L231L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C693A	22						.						89.0	77.0	81.0					22																	17662736		2203	4300	6503	16042736	SO:0001819	synonymous_variant	51816	exon6			AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.1416C>A	22.37:g.17662736G>T			16042736	NM_177405	A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Silent	SNP	ENST00000399839.1	37	CCDS13742.1																																																																																				0.552	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316079.1		
DGCR8	54487	broad.mit.edu	37	22	20077318	20077318	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr22:20077318G>A	ENST00000351989.3	+	4	1436	c.1007G>A	c.(1006-1008)gGa>gAa	p.G336E	DGCR8_ENST00000383024.2_Missense_Mutation_p.G336E|DGCR8_ENST00000407755.1_Missense_Mutation_p.G336E	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	336	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with NCL.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)	p.G336E(1)		NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					TACTTCTTGGGAACGGGAAGC	0.552																																					p.G336E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1007A	22						.						144.0	130.0	135.0					22																	20077318		2203	4300	6503	18457318	SO:0001583	missense	54487	exon4			AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.1007G>A	22.37:g.20077318G>A	ENSP00000263209:p.Gly336Glu		18457318	NM_001190326	B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	37	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763896	0.89932	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.37411	1.24;1.2;1.2	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.60663	0.2286	M	0.82517	2.595	0.80722	D	1	D;D	0.60160	0.981;0.987	P;P	0.61275	0.886;0.786	T	0.65730	-0.6097	10	0.87932	D	0	-10.5327	15.0514	0.71872	0.0:0.0:0.8574:0.1426	.	336;336	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	E	336	ENSP00000263209:G336E;ENSP00000372488:G336E;ENSP00000384726:G336E	ENSP00000263209:G336E	G	+	2	0	DGCR8	18457318	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.330000	0.79181	2.677000	0.91161	0.650000	0.86243	GGA		0.552	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1		
BCR	613	broad.mit.edu	37	22	23637323	23637323	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr22:23637323T>C	ENST00000305877.8	+	16	3744	c.2993T>C	c.(2992-2994)aTg>aCg	p.M998T	BCR_ENST00000359540.3_Intron	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	998	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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.M998T(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)	GACAGACTCATGGGGAAGGGC	0.592			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""																																p.M998T			Dom	yes		22	22q11.21	613	breakpoint cluster region		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2993C	22						.						97.0	74.0	82.0					22																	23637323		2203	4300	6503	21967323	SO:0001583	missense	613	exon16				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.2993T>C	22.37:g.23637323T>C	ENSP00000303507:p.Met998Thr		21967323	NM_004327	P78501|Q12842|Q4LE80|Q6NZI3	Missense_Mutation	SNP	ENST00000305877.8	37	CCDS13806.1	.	.	.	.	.	.	.	.	.	.	T	6.990	0.552800	0.13374	.	.	ENSG00000186716	ENST00000305877;ENST00000334149	T	0.39787	1.06	4.96	2.81	0.32909	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.135860	0.64402	D	0.000003	T	0.39517	0.1081	L	0.57536	1.79	0.80722	D	1	B;P	0.36183	0.066;0.542	B;B	0.42462	0.102;0.388	T	0.08186	-1.0734	10	0.21014	T	0.42	.	7.2494	0.26140	0.0:0.0769:0.1461:0.777	.	587;998	B4E065;P11274	.;BCR_HUMAN	T	998;663	ENSP00000303507:M998T	ENSP00000303507:M998T	M	+	2	0	BCR	21967323	1.000000	0.71417	0.995000	0.50966	0.023000	0.10783	7.755000	0.85180	0.331000	0.23511	-0.378000	0.06908	ATG		0.592	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327	
GGT1	2678	broad.mit.edu	37	22	25010828	25010828	+	Missense_Mutation	SNP	G	G	A	rs77018131		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	A	Unknown	Valid	Germline	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr22:25010828G>A	ENST00000400382.1	+	6	1005	c.250G>A	c.(250-252)Ggc>Agc	p.G84S	GGT1_ENST00000406383.2_Missense_Mutation_p.G84S|GGT1_ENST00000400380.1_Missense_Mutation_p.G84S|GGT1_ENST00000400383.1_Missense_Mutation_p.G84S|GGT1_ENST00000248923.4_Missense_Mutation_p.G84S			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	84					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.G84S(1)		breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CCACAGCATGGGCATCGGGGG	0.642													a|||	1	0.000199681	0.0	0.0	5008	,	,		13761	0.0		0.0	False		,,,				2504	0.001				p.G84S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G250A	22						.						37.0	39.0	38.0					22																	25010828		2020	4166	6186	23340828	SO:0001583	missense	2678	exon6			M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.250G>A	22.37:g.25010828G>A	ENSP00000383232:p.Gly84Ser		23340828	NM_013430	Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	ENST00000400382.1	37	CCDS42992.1	.	.	.	.	.	.	.	.	.	.	.	26.4	4.730880	0.89390	.	.	ENSG00000100031	ENST00000248923;ENST00000411974;ENST00000412658;ENST00000419133;ENST00000400382;ENST00000452551;ENST00000400383;ENST00000400380;ENST00000455483;ENST00000430289;ENST00000447416;ENST00000432867;ENST00000451366;ENST00000406383;ENST00000428855	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02;2.02;2.02;2.02;2.02;2.02;2.02;2.02;2.02;2.02;2.02	3.89	3.89	0.44902	.	0.000000	0.85682	D	0.000000	T	0.56992	0.2023	H	0.94771	3.58	0.58432	D	0.999996	P	0.44986	0.847	D	0.63877	0.919	T	0.70680	-0.4805	10	0.72032	D	0.01	-22.8757	15.7009	0.77541	0.0:0.0:1.0:0.0	.	84	P19440	GGT1_HUMAN	S	84	ENSP00000248923:G84S;ENSP00000389935:G84S;ENSP00000393537:G84S;ENSP00000395271:G84S;ENSP00000383232:G84S;ENSP00000415553:G84S;ENSP00000383233:G84S;ENSP00000383231:G84S;ENSP00000415024:G84S;ENSP00000417044:G84S;ENSP00000400621:G84S;ENSP00000398589:G84S;ENSP00000387796:G84S;ENSP00000385975:G84S;ENSP00000415068:G84S	ENSP00000248923:G84S	G	+	1	0	GGT1	23340828	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	7.412000	0.80091	2.100000	0.63781	0.555000	0.69702	GGC		0.642	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1	NM_013430	
MYO18B	84700	broad.mit.edu	37	22	26342203	26342203	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr22:26342203G>A	ENST00000407587.2	+	35	5790	c.5621G>A	c.(5620-5622)cGg>cAg	p.R1874Q	MYO18B_ENST00000536101.1_Missense_Mutation_p.R1873Q|MYO18B_ENST00000335473.7_Missense_Mutation_p.R1873Q			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1873	Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R1874Q(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AACATGACGCGGAACAAGAGC	0.602																																					p.R1873Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5618A	22						.						44.0	53.0	50.0					22																	26342203		2101	4209	6310	24672203	SO:0001583	missense	84700	exon35			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.5621G>A	22.37:g.26342203G>A	ENSP00000386096:p.Arg1874Gln		24672203	NM_032608	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		.	.	.	.	.	.	.	.	.	.	g	12.78	2.039429	0.35989	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.88664	-2.41;-2.41;-2.41	4.92	2.81	0.32909	.	0.266498	0.27048	N	0.021185	D	0.82697	0.5093	L	0.50333	1.59	0.26736	N	0.970493	B;B;B;B	0.31256	0.266;0.211;0.266;0.316	B;B;B;B	0.21360	0.03;0.015;0.03;0.034	T	0.76926	-0.2778	10	0.87932	D	0	.	8.9617	0.35851	0.1754:0.0:0.8246:0.0	.	1386;1873;1874;1873	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	Q	1873;1873;1874	ENSP00000441229:R1873Q;ENSP00000334563:R1873Q;ENSP00000386096:R1874Q	ENSP00000334563:R1873Q	R	+	2	0	MYO18B	24672203	0.940000	0.31905	0.983000	0.44433	0.353000	0.29299	0.847000	0.27696	1.076000	0.40961	0.598000	0.82781	CGG		0.602	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608	
SEC14L4	284904	broad.mit.edu	37	22	30887908	30887908	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr22:30887908C>A	ENST00000255858.7	-	10	907	c.824G>T	c.(823-825)aGg>aTg	p.R275M	SEC14L4_ENST00000381982.3_Missense_Mutation_p.R275M|RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000392772.2_Missense_Mutation_p.R221M|SEC14L4_ENST00000540456.1_Missense_Mutation_p.R260M|RP4-539M6.14_ENST00000610156.1_RNA	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	275	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.R275M(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	ATACTGCAGCCTCACCTGCTC	0.617																																					p.R275M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G824T	22						.						56.0	47.0	50.0					22																	30887908		2203	4300	6503	29217908	SO:0001583	missense	284904	exon10			AY158085	CCDS13878.1, CCDS54517.1	22q12.1	2003-03-10			ENSG00000133488	ENSG00000133488			20627	protein-coding gene	gene with protein product		612825					Standard	NM_174977		Approved	TAP3, dJ130H16.5	uc003aid.2	Q9UDX3	OTTHUMG00000151258	ENST00000255858.7:c.824G>T	22.37:g.30887908C>A	ENSP00000255858:p.Arg275Met		29217908	NM_001161368	A5D6W7|A6NCV4	Missense_Mutation	SNP	ENST00000255858.7	37	CCDS13878.1	.	.	.	.	.	.	.	.	.	.	c	5.539	0.284333	0.10513	.	.	ENSG00000133488	ENST00000255858;ENST00000540456;ENST00000392772;ENST00000381982	T;T;T;T	0.74209	-0.7;-0.3;-0.3;-0.82	4.12	-2.33	0.06724	GOLD (2);	0.611446	0.17698	N	0.165003	T	0.67767	0.2928	L	0.34521	1.04	0.80722	D	1	B;P;B	0.48089	0.014;0.905;0.009	B;P;B	0.52217	0.017;0.693;0.019	T	0.64394	-0.6418	10	0.38643	T	0.18	-9.98	10.0906	0.42445	0.0:0.2375:0.0:0.7625	.	221;260;275	B3KSF0;G3V1L4;Q9UDX3	.;.;S14L4_HUMAN	M	275;260;221;275	ENSP00000255858:R275M;ENSP00000440848:R260M;ENSP00000376525:R221M;ENSP00000371412:R275M	ENSP00000255858:R275M	R	-	2	0	SEC14L4	29217908	0.051000	0.20477	0.331000	0.25455	0.006000	0.05464	0.320000	0.19540	-0.211000	0.10124	-0.191000	0.12829	AGG		0.617	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321946.1	NM_174977	
LARGE	9215	broad.mit.edu	37	22	34000492	34000492	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr22:34000492G>T	ENST00000354992.2	-	6	1115	c.544C>A	c.(544-546)Ctg>Atg	p.L182M	LARGE_ENST00000402320.1_Missense_Mutation_p.L182M|LARGE_ENST00000397394.2_Missense_Mutation_p.L182M|LARGE_ENST00000437602.2_Missense_Mutation_p.L182M|LARGE_ENST00000337431.2_Missense_Mutation_p.L182M	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	182					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)	p.L182M(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				AGCGTGGCCAGGATCTGCTCC	0.587																																					p.L182M	Colon(70;397 1175 4573 19089 45288)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C544A	22						.						156.0	128.0	137.0					22																	34000492		2203	4300	6503	32330492	SO:0001583	missense	9215	exon5			AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.544C>A	22.37:g.34000492G>T	ENSP00000347088:p.Leu182Met		32330492	NM_133642	B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	ENST00000354992.2	37	CCDS13912.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088675	0.76756	.	.	ENSG00000133424	ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000437602	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.79	3.72	0.42706	.	0.000000	0.85682	D	0.000000	T	0.70527	0.3234	M	0.89968	3.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.997	T	0.72798	-0.4184	10	0.72032	D	0.01	-14.9159	8.6788	0.34196	0.234:0.0:0.766:0.0	.	182;182;182	B7Z2I9;O95461-2;O95461	.;.;LARGE_HUMAN	M	182	ENSP00000347088:L182M;ENSP00000336636:L182M;ENSP00000380549:L182M;ENSP00000385223:L182M;ENSP00000388544:L182M	ENSP00000336636:L182M	L	-	1	2	LARGE	32330492	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.284000	0.58983	0.800000	0.34041	0.561000	0.74099	CTG		0.587	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642	
TMPRSS6	164656	broad.mit.edu	37	22	37469620	37469620	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr22:37469620C>A	ENST00000346753.3	-	13	1650	c.1534G>T	c.(1534-1536)Ggg>Tgg	p.G512W	TMPRSS6_ENST00000381792.2_Missense_Mutation_p.G503W|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.G503W|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.G503W	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	512	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.G512W(1)		breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TCAGGCTGCCCATCACAGACC	0.592																																					p.G512W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1534T	22						.						204.0	157.0	173.0					22																	37469620		2203	4300	6503	35799566	SO:0001583	missense	164656	exon13			AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.1534G>T	22.37:g.37469620C>A	ENSP00000334962:p.Gly512Trp		35799566	NM_153609	B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.686118	0.29962	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856	D;D;D;D	0.96992	-4.2;-4.2;-4.2;-4.2	4.79	2.57	0.30868	.	0.702003	0.13997	N	0.348398	D	0.97062	0.9040	M	0.93898	3.47	0.32370	N	0.556031	P;P	0.51537	0.933;0.946	P;B	0.46339	0.513;0.401	D	0.95682	0.8733	10	0.56958	D	0.05	.	10.8071	0.46524	0.0:0.5049:0.3683:0.1268	.	503;512	Q8IU80-5;Q8IU80	.;TMPS6_HUMAN	W	503;512;503;503	ENSP00000371211:G503W;ENSP00000334962:G512W;ENSP00000385453:G503W;ENSP00000384964:G503W	ENSP00000334962:G512W	G	-	1	0	TMPRSS6	35799566	0.988000	0.35896	0.987000	0.45799	0.061000	0.15899	1.817000	0.39002	0.371000	0.24564	0.478000	0.44815	GGG		0.592	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609	
CACNA1I	8911	broad.mit.edu	37	22	40058844	40058844	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr22:40058844G>A	ENST00000402142.3	+	18	3436	c.3436G>A	c.(3436-3438)Gaa>Aaa	p.E1146K	CACNA1I_ENST00000407673.1_Missense_Mutation_p.E1111K|CACNA1I_ENST00000400164.3_Missense_Mutation_p.E1111K|CACNA1I_ENST00000404898.1_Missense_Mutation_p.E1111K|CACNA1I_ENST00000336649.4_Missense_Mutation_p.E1152K|CACNA1I_ENST00000401624.1_Missense_Mutation_p.E1146K	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1146					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.E1111K(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CGAGGTCCGCGAAGACTGGTC	0.622																																					p.E1146K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3436A	22						.						43.0	46.0	45.0					22																	40058844		2154	4254	6408	38388790	SO:0001583	missense	8911	exon18			AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.3436G>A	22.37:g.40058844G>A	ENSP00000385019:p.Glu1146Lys		38388790	NM_021096	B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276351	0.80580	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.97186	-4.26;-4.22;-4.24;-4.2;-4.28;-4.19	5.39	3.25	0.37280	.	0.532630	0.20683	N	0.087619	D	0.97692	0.9243	M	0.67625	2.065	0.49687	D	0.99981	D;D;P;D	0.89917	0.996;1.0;0.804;1.0	P;D;B;D	0.80764	0.714;0.994;0.192;0.991	D	0.97081	0.9784	10	0.72032	D	0.01	.	10.8544	0.46789	0.0711:0.1311:0.7978:0.0	.	1111;1146;1111;1146	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	K	1146;1111;1146;1111;1152;1111	ENSP00000385019:E1146K;ENSP00000384093:E1111K;ENSP00000383887:E1146K;ENSP00000385680:E1111K;ENSP00000337829:E1152K;ENSP00000383028:E1111K	ENSP00000337829:E1152K	E	+	1	0	CACNA1I	38388790	1.000000	0.71417	0.970000	0.41538	0.347000	0.29111	5.718000	0.68455	0.616000	0.30141	-0.152000	0.13540	GAA		0.622	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406	
SULT4A1	25830	broad.mit.edu	37	22	44229589	44229589	+	Silent	SNP	G	G	A	rs369275859		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr22:44229589G>A	ENST00000330884.4	-	5	654	c.534C>T	c.(532-534)caC>caT	p.H178H	SULT4A1_ENST00000540422.1_Silent_p.H65H|SULT4A1_ENST00000249130.5_Silent_p.H178H	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	178					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)	p.H178H(1)		kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		ACTCCTGCACGTGCTCAAACC	0.627																																					p.H178H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C534T	22						.	G		0,4400		0,0,2200	39.0	28.0	32.0		534	-4.9	1.0	22		32	1,8593		0,1,4296	no	coding-synonymous	SULT4A1	NM_014351.3		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		178/285	44229589	1,12993	2200	4297	6497	42560922	SO:0001819	synonymous_variant	25830	exon5			AF188698	CCDS14051.1	22q13.2	2012-11-05			ENSG00000130540	ENSG00000130540		"""Sulfotransferases, cytosolic"""	14903	protein-coding gene	gene with protein product		608359				10698717	Standard	NM_014351		Approved	SULTX3, hBR-STL-1	uc003bee.1	Q9BR01	OTTHUMG00000141314	ENST00000330884.4:c.534C>T	22.37:g.44229589G>A			42560922	NM_014351	B2R7N3|O43728	Silent	SNP	ENST00000330884.4	37	CCDS14051.1																																																																																				0.627	SULT4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280660.2	NM_014351	
UPK3A	7380	broad.mit.edu	37	22	45683185	45683185	+	Missense_Mutation	SNP	C	C	T	rs188696049	byFrequency	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr22:45683185C>T	ENST00000216211.4	+	3	373	c.341C>T	c.(340-342)cCc>cTc	p.P114L	UPK3A_ENST00000396082.2_Intron	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	114					cell morphogenesis (GO:0000902)|epithelial cell differentiation (GO:0030855)|kidney development (GO:0001822)|potassium ion homeostasis (GO:0055075)|sodium ion homeostasis (GO:0055078)|urea transport (GO:0015840)|urinary bladder development (GO:0060157)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.P114L(1)		kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		AGTGACCTGCCCAGCCTGGAT	0.597													C|||	2	0.000399361	0.0	0.0014	5008	,	,		19201	0.0		0.001	False		,,,				2504	0.0				p.P114L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C341T	22						.						119.0	92.0	101.0					22																	45683185		2203	4300	6503	44061849	SO:0001583	missense	7380	exon3			AB010637	CCDS14064.1, CCDS54539.1	22q13.31	2005-11-14	2003-07-29	2003-07-30	ENSG00000100373	ENSG00000100373			12580	protein-coding gene	gene with protein product		611559	"""uroplakin 3"""	UPK3		9818021	Standard	NM_006953		Approved		uc003bfy.3	O75631	OTTHUMG00000151339	ENST00000216211.4:c.341C>T	22.37:g.45683185C>T	ENSP00000216211:p.Pro114Leu		44061849	NM_006953	B0QY25|O60261|Q32N05|Q5TII6	Missense_Mutation	SNP	ENST00000216211.4	37	CCDS14064.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	21.5	4.164884	0.78339	.	.	ENSG00000100373	ENST00000216211	T	0.64618	-0.11	5.51	5.51	0.81932	.	0.066121	0.64402	D	0.000009	T	0.76321	0.3971	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.76769	-0.2837	10	0.54805	T	0.06	-13.1423	16.9197	0.86161	0.0:1.0:0.0:0.0	.	114	O75631	UPK3A_HUMAN	L	114	ENSP00000216211:P114L	ENSP00000216211:P114L	P	+	2	0	UPK3A	44061849	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	2.633000	0.46519	2.582000	0.87167	0.650000	0.86243	CCC		0.597	UPK3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000322276.1	NM_006953	
BRD1	23774	broad.mit.edu	37	22	50169348	50169348	+	Missense_Mutation	SNP	C	C	T	rs562289968		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr22:50169348C>T	ENST00000216267.8	-	11	3370	c.2884G>A	c.(2884-2886)Gtc>Atc	p.V962I	BRD1_ENST00000404034.1_Missense_Mutation_p.V962I|BRD1_ENST00000404760.1_Missense_Mutation_p.V1093I|BRD1_ENST00000457780.2_3'UTR|BRD1_ENST00000342989.5_Missense_Mutation_p.V688I|BRD1_ENST00000542442.1_Missense_Mutation_p.V650I	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	962	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)	p.V962I(1)		endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GGGATGGTGACGCCGTTGTGG	0.557																																					p.V962I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2884A	22						.						119.0	126.0	123.0					22																	50169348		2203	4300	6503	48555352	SO:0001583	missense	23774	exon11			AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.2884G>A	22.37:g.50169348C>T	ENSP00000216267:p.Val962Ile		48555352	NM_014577	A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273792	0.80580	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000542442;ENST00000342989;ENST00000419212	T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89	4.99	4.99	0.66335	PWWP (3);	0.056069	0.64402	D	0.000001	T	0.43500	0.1250	L	0.45137	1.4	0.80722	D	1	B;B;D;P	0.56968	0.384;0.235;0.978;0.865	B;B;D;B	0.66084	0.143;0.107;0.941;0.332	T	0.17961	-1.0352	10	0.44086	T	0.13	.	18.6179	0.91310	0.0:1.0:0.0:0.0	.	1093;688;962;1093	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	I	962;962;1093;650;688;553	ENSP00000216267:V962I;ENSP00000384076:V962I;ENSP00000385858:V1093I;ENSP00000437514:V650I;ENSP00000345886:V688I	ENSP00000216267:V962I	V	-	1	0	BRD1	48555352	1.000000	0.71417	0.966000	0.40874	0.917000	0.54804	7.595000	0.82710	2.484000	0.83849	0.591000	0.81541	GTC		0.557	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577	
THAP7	80764	broad.mit.edu	37	22	21357285	21357285	+	5'Flank	DEL	C	C	-	rs538859485		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr22:21357285delC	ENST00000215742.4	-	0	0				THAP7_ENST00000399133.2_5'Flank|THAP7-AS1_ENST00000452284.1_RNA|THAP7-AS1_ENST00000436079.1_RNA|THAP7-AS1_ENST00000429962.1_RNA	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7						negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nuclear speck (GO:0016607)	C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TCGGAGAATTCCCCCACTGCC	0.597																																					.												.	.	0			.	22						.																																			19687285	SO:0001631	upstream_gene_variant	439931	.			BC004346	CCDS13787.1	22q11.2	2013-01-25			ENSG00000184436	ENSG00000184436		"""THAP (C2CH-type zinc finger) domain containing"""	23190	protein-coding gene	gene with protein product		609518				12575992	Standard	NM_030573		Approved	MGC10963	uc002ztr.1	Q9BT49	OTTHUMG00000150879		22.37:g.21357285delC	Exception_encountered		19687285	.	B2RD97|D3DX40	Frame_Shift_Del	DEL	ENST00000215742.4	37	CCDS13787.1																																																																																				0.597	THAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320405.1	NM_030573	
ZBED4	9889	broad.mit.edu	37	22	50278356	50278356	+	Missense_Mutation	SNP	C	C	T	rs150475592	byFrequency	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr22:50278356C>T	ENST00000216268.5	+	2	1523	c.1046C>T	c.(1045-1047)cCg>cTg	p.P349L		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	349						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P349L(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)		ACGGGCATCCCGCCACTGTAC	0.647																																					p.P349L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1046T	22						.						49.0	50.0	50.0					22																	50278356		2203	4300	6503	48664360	SO:0001583	missense	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.1046C>T	22.37:g.50278356C>T	ENSP00000216268:p.Pro349Leu		48664360	NM_014838	B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	ENST00000216268.5	37	CCDS33677.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.399924	0.62177	.	.	ENSG00000100426	ENST00000216268	T	0.49432	0.78	5.17	5.17	0.71159	.	0.060206	0.64402	D	0.000002	T	0.67869	0.2939	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69767	-0.5056	10	0.72032	D	0.01	-17.7106	18.861	0.92271	0.0:1.0:0.0:0.0	.	349	O75132	ZBED4_HUMAN	L	349	ENSP00000216268:P349L	ENSP00000216268:P349L	P	+	2	0	ZBED4	48664360	1.000000	0.71417	0.228000	0.23943	0.014000	0.08584	5.248000	0.65421	2.703000	0.92315	0.650000	0.86243	CCG		0.647	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838	
MAP4K4	9448	broad.mit.edu	37	2	102493528	102493528	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:102493528A>C	ENST00000347699.4	+	24	2870	c.2870A>C	c.(2869-2871)aAg>aCg	p.K957T	MAP4K4_ENST00000324219.4_Missense_Mutation_p.K1038T|MAP4K4_ENST00000350878.4_Missense_Mutation_p.K997T|MAP4K4_ENST00000350198.4_Missense_Mutation_p.K876T|MAP4K4_ENST00000425019.1_Missense_Mutation_p.K990T|MAP4K4_ENST00000413150.2_Missense_Mutation_p.K872T|MAP4K4_ENST00000456652.1_Missense_Mutation_p.K756T|MAP4K4_ENST00000302217.5_Missense_Mutation_p.K760T	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	957	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.|Mediates interaction with RAP2A.				intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.K1038T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GGCCAAGGGAAGGTCTATCCT	0.448																																					p.K930T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2789C	2						.						169.0	164.0	166.0					2																	102493528		2027	4186	6213	101859960	SO:0001583	missense	9448	exon25			AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.2870A>C	2.37:g.102493528A>C	ENSP00000314363:p.Lys957Thr		101859960	NM_145687	O75172|Q9NST7	Missense_Mutation	SNP	ENST00000347699.4	37	CCDS56130.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	28.6|28.6	4.935268|4.935268	0.92458|0.92458	.|.	.|.	ENSG00000071054|ENSG00000071054	ENST00000421882|ENST00000425019;ENST00000324219;ENST00000350198;ENST00000302217;ENST00000413150;ENST00000456652;ENST00000347699;ENST00000417294;ENST00000350878	.|T;T;T;T;T;T;T;T;T	.|0.05081	.|3.5;3.5;3.5;3.5;3.5;3.5;3.5;3.5;3.5	5.48|5.48	5.48|5.48	0.80851|0.80851	.|Citron-like (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.26702|0.26702	0.0653|0.0653	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;P;D;D;D	.|0.89917	.|0.997;0.991;1.0;0.998;0.989;1.0;0.766;0.989;1.0;0.998	.|D;D;D;D;D;D;B;D;D;D	.|0.80764	.|0.992;0.988;0.994;0.958;0.979;0.994;0.365;0.979;0.994;0.958	T|T	0.01165|0.01165	-1.1431|-1.1431	5|10	.|0.87932	.|D	.|0	.|.	15.8622|15.8622	0.79035|0.79035	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|997;953;756;760;875;957;990;876;929;1038	.|B7Z388;B7Z3V5;E7EX83;C9J840;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948	.|.;.;.;.;.;M4K4_HUMAN;.;.;.;.	D|T	773|990;1038;876;760;872;756;957;888;997	.|ENSP00000392830:K990T;ENSP00000313644:K1038T;ENSP00000281111:K876T;ENSP00000303600:K760T;ENSP00000389752:K872T;ENSP00000387370:K756T;ENSP00000314363:K957T;ENSP00000409720:K888T;ENSP00000343658:K997T	.|ENSP00000303600:K760T	E|K	+|+	3|2	2|0	MAP4K4|MAP4K4	101859960|101859960	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.992000|0.992000	0.81027|0.81027	9.287000|9.287000	0.95975|0.95975	2.194000|2.194000	0.70268|0.70268	0.533000|0.533000	0.62120|0.62120	GAA|AAG		0.448	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834	
BUB1	699	broad.mit.edu	37	2	111416240	111416240	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:111416240C>T	ENST00000302759.6	-	12	1474	c.1356G>A	c.(1354-1356)acG>acA	p.T452T	BUB1_ENST00000535254.1_Silent_p.T432T|BUB1_ENST00000409311.1_Silent_p.T452T	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	452					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.T452T(1)		breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		CTTTGGATGGCGTTGCCTGAA	0.433																																					p.T452T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1356A	2						.						226.0	192.0	204.0					2																	111416240		2203	4300	6503	111132713	SO:0001819	synonymous_variant	699	exon12			AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.1356G>A	2.37:g.111416240C>T			111132713	NM_004336	E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Silent	SNP	ENST00000302759.6	37	CCDS33273.1																																																																																				0.433	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336	
NTSR2	23620	broad.mit.edu	37	2	11798757	11798757	+	Missense_Mutation	SNP	C	C	T	rs369667788		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:11798757C>T	ENST00000306928.5	-	4	1115	c.1081G>A	c.(1081-1083)Gtg>Atg	p.V361M		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	361					cell surface receptor signaling pathway (GO:0007166)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of membrane potential (GO:0042391)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)	p.V361M(1)		breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	GAGGAGGACACGGCGTTGTAG	0.542																																					p.V361M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1081A	2						.	C	MET/VAL	0,4406		0,0,2203	93.0	92.0	92.0		1081	-5.9	0.0	2		92	1,8599	1.2+/-3.3	0,1,4299	no	missense	NTSR2	NM_012344.3	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	361/411	11798757	1,13005	2203	4300	6503	11716208	SO:0001583	missense	23620	exon4			Y10148	CCDS1681.1	2p25.1	2012-08-08			ENSG00000169006	ENSG00000169006		"""GPCR / Class A : Neurotensin receptors"""	8040	protein-coding gene	gene with protein product		605538				8647296, 9851594	Standard	NM_012344		Approved	NTR2	uc002rbq.4	O95665	OTTHUMG00000119083	ENST00000306928.5:c.1081G>A	2.37:g.11798757C>T	ENSP00000303686:p.Val361Met		11716208	NM_012344	Q53QQ5|Q57Z87|Q8IY58|Q8TBH6	Missense_Mutation	SNP	ENST00000306928.5	37	CCDS1681.1	.	.	.	.	.	.	.	.	.	.	C	1.929	-0.446380	0.04604	0.0	1.16E-4	ENSG00000169006	ENST00000306928	T	0.36340	1.26	4.31	-5.88	0.02290	.	1.479790	0.04388	N	0.361983	T	0.19248	0.0462	L	0.32530	0.975	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.21621	-1.0240	10	0.07990	T	0.79	-2.9716	3.1088	0.06351	0.1134:0.2835:0.1122:0.4909	.	361	O95665	NTR2_HUMAN	M	361	ENSP00000303686:V361M	ENSP00000303686:V361M	V	-	1	0	NTSR2	11716208	0.106000	0.21978	0.001000	0.08648	0.005000	0.04900	0.522000	0.22909	-1.234000	0.02548	-1.866000	0.00557	GTG		0.542	NTSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239297.1		
IL1A	3552	broad.mit.edu	37	2	113535674	113535674	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:113535674C>A	ENST00000263339.3	-	6	660	c.505G>T	c.(505-507)Ggt>Tgt	p.G169C		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	169					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|response to copper ion (GO:0046688)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	copper ion binding (GO:0005507)|cytokine activity (GO:0005125)	p.G169C(1)		breast(2)|large_intestine(1)|lung(9)	12					Rilonacept(DB06372)	TTATAAGCACCCATGTCAAAT	0.348																																					p.G169C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G505T	2						.						111.0	105.0	107.0					2																	113535674		2203	4300	6503	113252145	SO:0001583	missense	3552	exon6			M28983	CCDS2101.1	2q14	2014-01-30			ENSG00000115008	ENSG00000115008		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	5991	protein-coding gene	gene with protein product	"""preinterleukin 1 alpha"", ""hematopoietin-1"", ""pro-interleukin-1-alpha"""	147760		IL1		8188271, 2989698	Standard	NM_000575		Approved	IL1F1, IL-1A, IL1-ALPHA	uc002tig.3	P01583	OTTHUMG00000131315	ENST00000263339.3:c.505G>T	2.37:g.113535674C>A	ENSP00000263339:p.Gly169Cys		113252145	NM_000575	Q53QF9|Q7RU02	Missense_Mutation	SNP	ENST00000263339.3	37	CCDS2101.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.863220	0.32884	.	.	ENSG00000115008	ENST00000263339	T	0.17854	2.25	5.48	2.64	0.31445	.	0.684824	0.13502	N	0.383142	T	0.31575	0.0801	L	0.60455	1.87	0.09310	N	1	D	0.76494	0.999	D	0.70227	0.968	T	0.08953	-1.0697	10	0.56958	D	0.05	-43.1956	5.191	0.15209	0.1688:0.6574:0.0:0.1738	.	169	P01583	IL1A_HUMAN	C	169	ENSP00000263339:G169C	ENSP00000263339:G169C	G	-	1	0	IL1A	113252145	0.214000	0.23563	0.071000	0.20095	0.649000	0.38597	1.394000	0.34509	0.337000	0.23665	-0.136000	0.14681	GGT		0.348	IL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254084.1	NM_000575	
CLASP1	23332	broad.mit.edu	37	2	122159085	122159085	+	Splice_Site	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:122159085C>A	ENST00000263710.4	-	28	3289	c.2900G>T	c.(2899-2901)aGg>aTg	p.R967M	CLASP1_ENST00000409078.3_Splice_Site_p.R939M|CLASP1_ENST00000541377.1_Splice_Site_p.R945M|CLASP1_ENST00000541859.1_Splice_Site_p.R723M|CLASP1_ENST00000545861.1_Splice_Site_p.R713M|CLASP1_ENST00000455322.2_Splice_Site_p.R962M|CLASP1_ENST00000397587.3_Splice_Site_p.R946M	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	967					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)	p.R967M(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					AAACACTTACCTTGTGACATC	0.398																																					p.R939M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2816T	2						.						240.0	237.0	238.0					2																	122159085		1870	4109	5979	121875555	SO:0001630	splice_region_variant	23332	exon27			AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.2900+1G>T	2.37:g.122159085C>A			121875555	NM_001142274	B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	37		.	.	.	.	.	.	.	.	.	.	C	27.0	4.793955	0.90453	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	5.58	5.58	0.84498	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79167	0.4400	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	0.996;1.0;0.997	P;D;D	0.74348	0.862;0.983;0.931	T	0.77547	-0.2547	9	.	.	.	-3.2624	19.9199	0.97084	0.0:1.0:0.0:0.0	.	939;946;967	E7EUA5;F5GWS0;Q7Z460	.;.;CLAP1_HUMAN	M	967;962;946;945;723;939;713	ENSP00000263710:R967M;ENSP00000389372:R962M;ENSP00000380717:R946M;ENSP00000441625:R945M;ENSP00000441770:R723M;ENSP00000386442:R939M;ENSP00000438620:R713M	.	R	-	2	0	CLASP1	121875555	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	7.406000	0.80017	2.781000	0.95711	0.591000	0.81541	AGG		0.398	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282	Missense_Mutation
ERCC3	2071	broad.mit.edu	37	2	128044438	128044438	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:128044438C>T	ENST00000285398.2	-	8	1277	c.1183G>A	c.(1183-1185)Gat>Aat	p.D395N	ERCC3_ENST00000493187.2_Missense_Mutation_p.D331N	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	395	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|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)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)	p.D395N(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TCCTTGGCATCGGAGGTGAAC	0.582			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																												p.D395N		yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"""excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"""		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1183A	2						.						132.0	120.0	124.0					2																	128044438		2203	4300	6503	127760908	SO:0001583	missense	2071	exon8	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	3435	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group B complementing"""	133510	"""excision repair cross-complementing rodent repair deficiency, complementation group 3"""			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.1183G>A	2.37:g.128044438C>T	ENSP00000285398:p.Asp395Asn		127760908	NM_000122	Q53QM0	Missense_Mutation	SNP	ENST00000285398.2	37	CCDS2144.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488635	0.84854	.	.	ENSG00000163161	ENST00000285398;ENST00000493187	T;T	0.38560	1.13;1.13	5.26	4.37	0.52481	DEAD-like helicase (2);Helicase/UvrB domain (1);	0.000000	0.85682	D	0.000000	T	0.47377	0.1442	M	0.74881	2.28	0.80722	D	1	P	0.46578	0.88	B	0.43386	0.418	T	0.57213	-0.7850	10	0.87932	D	0	-28.3709	13.6162	0.62110	0.0:0.9247:0.0:0.0753	.	395	P19447	ERCC3_HUMAN	N	395;331	ENSP00000285398:D395N;ENSP00000444796:D331N	ENSP00000285398:D395N	D	-	1	0	ERCC3	127760908	1.000000	0.71417	0.690000	0.30148	0.696000	0.40369	6.039000	0.70972	2.605000	0.88082	0.655000	0.94253	GAT		0.582	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122	
TUBA3E	112714	broad.mit.edu	37	2	130951399	130951399	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:130951399C>T	ENST00000312988.7	-	4	1116	c.1016G>A	c.(1015-1017)cGc>cAc	p.R339H		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	339					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.R339H(1)		endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					CTGGATAGTGCGCTTGGTCTT	0.547																																					p.R339H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1016A	2						.						134.0	112.0	120.0					2																	130951399		2203	4300	6503	130667869	SO:0001583	missense	112714	exon4			BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"""Tubulins"""	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.1016G>A	2.37:g.130951399C>T	ENSP00000318197:p.Arg339His		130667869	NM_207312		Missense_Mutation	SNP	ENST00000312988.7	37	CCDS2158.1	.	.	.	.	.	.	.	.	.	.	c	12.75	2.031608	0.35797	.	.	ENSG00000152086	ENST00000312988	D	0.84146	-1.81	2.96	2.96	0.34315	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.47455	U	0.000237	D	0.83151	0.5192	M	0.72576	2.205	0.51233	D	0.999916	B	0.12013	0.005	B	0.17098	0.017	T	0.83346	-0.0005	10	0.87932	D	0	.	11.6912	0.51516	0.0:1.0:0.0:0.0	.	339	Q6PEY2	TBA3E_HUMAN	H	339	ENSP00000318197:R339H	ENSP00000318197:R339H	R	-	2	0	TUBA3E	130667869	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.919000	0.56439	1.668000	0.50843	0.455000	0.32223	CGC		0.547	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	NM_207312	
CCDC115	84317	broad.mit.edu	37	2	131099613	131099613	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:131099613G>A	ENST00000259229.2	-	1	309	c.86C>T	c.(85-87)aCg>aTg	p.T29M	IMP4_ENST00000259239.3_5'Flank|IMP4_ENST00000409935.1_5'Flank|CCDC115_ENST00000437688.2_Intron|CCDC115_ENST00000409127.1_Intron	NM_032357.2	NP_115733.2	Q96NT0	CC115_HUMAN	coiled-coil domain containing 115	29						endosome (GO:0005768)|lysosome (GO:0005764)|membrane (GO:0016020)		p.T29M(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	7	Colorectal(110;0.1)					GTTCAACACCGTTCGTTTCCC	0.657																																					p.T29M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C86T	2						.						78.0	81.0	80.0					2																	131099613		2203	4300	6503	130816083	SO:0001583	missense	84317	exon1			AK054693	CCDS2159.1	2q21.1	2010-12-24			ENSG00000136710	ENSG00000136710			28178	protein-coding gene	gene with protein product		613734				21118521	Standard	XM_005263825		Approved	MGC12981, FLJ30131, ccp1	uc002tqy.1	Q96NT0	OTTHUMG00000131631	ENST00000259229.2:c.86C>T	2.37:g.131099613G>A	ENSP00000259229:p.Thr29Met		130816083	NM_032357	B4DJ47|Q9BR88	Missense_Mutation	SNP	ENST00000259229.2	37	CCDS2159.1	.	.	.	.	.	.	.	.	.	.	G	7.181	0.589631	0.13812	.	.	ENSG00000136710	ENST00000259229	D	0.94687	-3.49	4.4	-2.18	0.07037	.	0.893304	0.09678	N	0.770126	T	0.80665	0.4666	N	0.08118	0	0.09310	N	0.999992	B;P	0.37781	0.3;0.608	B;B	0.28011	0.085;0.07	T	0.75045	-0.3456	10	0.49607	T	0.09	.	0.1873	0.00130	0.281:0.1491:0.2657:0.3042	.	29;29	F8WCZ3;Q96NT0	.;CC115_HUMAN	M	29	ENSP00000259229:T29M	ENSP00000259229:T29M	T	-	2	0	CCDC115	130816083	0.000000	0.05858	0.003000	0.11579	0.203000	0.24098	-0.416000	0.07097	-0.313000	0.08728	0.655000	0.94253	ACG		0.657	CCDC115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254524.2	NM_032357	
LRP1B	53353	broad.mit.edu	37	2	141665589	141665589	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:141665589G>A	ENST00000389484.3	-	22	4348	c.3377C>T	c.(3376-3378)tCa>tTa	p.S1126L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1126	LDL-receptor class A 9. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.S1126L(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATCTTCATCTGACTGATCTTC	0.438										TSP Lung(27;0.18)																											p.S1126L	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3377T	2						.						199.0	159.0	173.0					2																	141665589		2203	4300	6503	141382059	SO:0001583	missense	53353	exon22			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3377C>T	2.37:g.141665589G>A	ENSP00000374135:p.Ser1126Leu		141382059	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	36	5.761061	0.96906	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.97811	-4.55;-4.55	5.58	5.58	0.84498	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.168012	0.40469	N	0.001083	D	0.99045	0.9673	M	0.91038	3.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.99537	1.0962	10	0.87932	D	0	.	19.5654	0.95390	0.0:0.0:1.0:0.0	.	309;1126	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	L	1126;1064;271	ENSP00000374135:S1126L;ENSP00000413239:S271L	ENSP00000374135:S1126L	S	-	2	0	LRP1B	141382059	1.000000	0.71417	0.978000	0.43139	0.988000	0.76386	9.752000	0.98900	2.641000	0.89580	0.585000	0.79938	TCA		0.438	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
ACVR2A	92	broad.mit.edu	37	2	148680544	148680544	+	Silent	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:148680544T>C	ENST00000241416.7	+	9	1716	c.1080T>C	c.(1078-1080)gtT>gtC	p.V360V	ACVR2A_ENST00000404590.1_Silent_p.V360V|ACVR2A_ENST00000535787.1_Silent_p.V252V	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	360	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.V360V(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)		TTTTTCAGGTTGGTACCCGGA	0.368																																					p.V360V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1080C	2						.						145.0	150.0	149.0					2																	148680544		2203	4300	6503	148397014	SO:0001819	synonymous_variant	92	exon9				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.1080T>C	2.37:g.148680544T>C			148397014	NM_001616	B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Silent	SNP	ENST00000241416.7	37	CCDS33301.1																																																																																				0.368	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616	
NBAS	51594	broad.mit.edu	37	2	15470731	15470731	+	Silent	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:15470731T>C	ENST00000281513.5	-	36	4363	c.4338A>G	c.(4336-4338)cgA>cgG	p.R1446R	NBAS_ENST00000441750.1_Silent_p.R1326R	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1446					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.R1446R(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CCTGAAGGGGTCGAAGGTAAG	0.418																																					p.R1446R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A4338G	2						.						115.0	107.0	110.0					2																	15470731		2203	4300	6503	15388182	SO:0001819	synonymous_variant	51594	exon36			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.4338A>G	2.37:g.15470731T>C			15388182	NM_015909	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	37	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	T	5.104	0.204743	0.09704	.	.	ENSG00000151779	ENST00000442506	.	.	.	5.61	-11.2	0.00127	.	.	.	.	.	T	0.45175	0.1329	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58730	-0.7585	4	.	.	.	.	8.3952	0.32553	0.14:0.5215:0.0707:0.2677	.	.	.	.	G	494	.	.	D	-	2	0	NBAS	15388182	0.000000	0.05858	0.072000	0.20136	0.109000	0.19521	-5.022000	0.00159	-3.048000	0.00261	-2.460000	0.00205	GAC		0.418	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909	
NEB	4703	broad.mit.edu	37	2	152408253	152408253	+	Splice_Site	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:152408253G>A	ENST00000172853.10	-	101	14987	c.14840C>T	c.(14839-14841)tCg>tTg	p.S4947L	NEB_ENST00000604864.1_Splice_Site_p.S6648L|NEB_ENST00000409198.1_Splice_Site_p.S4947L|NEB_ENST00000397345.3_Splice_Site_p.S6648L|NEB_ENST00000427231.2_Splice_Site_p.S6648L|NEB_ENST00000603639.1_Splice_Site_p.S6648L			P20929	NEBU_HUMAN	nebulin	4947					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.S4947L(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)		ACTGCTCACCGAACTCTGGAG	0.512																																					p.S6648L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C19943T	2						.						83.0	78.0	80.0					2																	152408253		1928	4129	6057	152116499	SO:0001630	splice_region_variant	4703	exon129			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.14841+1C>T	2.37:g.152408253G>A			152116499	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	G	17.74	3.463109	0.63513	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.06608	3.41;3.41;3.41;3.28;3.41	6.06	4.91	0.64330	.	0.148745	0.64402	D	0.000013	T	0.05227	0.0139	N	0.19112	0.55	0.80722	D	1	B;B	0.30104	0.268;0.182	B;B	0.25987	0.065;0.024	T	0.44892	-0.9298	10	0.39692	T	0.17	.	13.4397	0.61106	0.0:0.0:0.1365:0.8635	.	4947;1378	P20929;Q14215	NEBU_HUMAN;.	L	4947;6648;6648;996;1378;4947	ENSP00000386259:S4947L;ENSP00000380505:S6648L;ENSP00000416578:S6648L;ENSP00000410961:S1378L;ENSP00000172853:S4947L	ENSP00000172853:S4947L	S	-	2	0	NEB	152116499	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	4.688000	0.61715	1.123000	0.41961	-0.262000	0.10625	TCG		0.512	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	Missense_Mutation
LY75	4065	broad.mit.edu	37	2	160708784	160708784	+	Silent	SNP	C	C	T	rs116013725	byFrequency	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:160708784C>T	ENST00000263636.4	-	21	2838	c.2811G>A	c.(2809-2811)tcG>tcA	p.S937S	LY75-CD302_ENST00000505052.1_Silent_p.S937S|LY75_ENST00000554112.1_Silent_p.S937S|LY75-CD302_ENST00000504764.1_Silent_p.S937S|LY75_ENST00000553424.1_Silent_p.S937S	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	937					endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.S937S(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		ATTTCTCTAACGAAGAAACAT	0.368													C|||	4	0.000798722	0.0023	0.0	5008	,	,		20387	0.0		0.001	False		,,,				2504	0.0				p.S937S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2811A	2						.	C	,,	10,4396	16.8+/-37.8	0,10,2193	83.0	84.0	84.0		2811,2811,2811	1.3	1.0	2	dbSNP_132	84	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	LY75,LY75-CD302	NM_001198759.1,NM_001198760.1,NM_002349.3	,,	0,10,6493	TT,TC,CC		0.0,0.227,0.0769	,,	937/1874,937/1818,937/1723	160708784	10,12996	2203	4300	6503	160417030	SO:0001819	synonymous_variant	4065	exon21			AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.2811G>A	2.37:g.160708784C>T			160417030	NM_001198760	O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Silent	SNP	ENST00000263636.4	37	CCDS2211.1																																																																																				0.368	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1		
PLA2R1	22925	broad.mit.edu	37	2	160798377	160798377	+	Missense_Mutation	SNP	C	C	T	rs182334014		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:160798377C>T	ENST00000283243.7	-	30	4510	c.4304G>A	c.(4303-4305)cGg>cAg	p.R1435Q	PLA2R1_ENST00000460710.1_5'UTR	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1435					cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)	p.R1435Q(1)	PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GTAAGGATTCCGAAACCCTGC	0.403													C|||	1	0.000199681	0.0	0.0	5008	,	,		17809	0.001		0.0	False		,,,				2504	0.0				p.R1435Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4304A	2						.						83.0	83.0	83.0					2																	160798377		2203	4300	6503	160506623	SO:0001583	missense	22925	exon30			U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.4304G>A	2.37:g.160798377C>T	ENSP00000283243:p.Arg1435Gln		160506623	NM_007366	B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	37	CCDS33309.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	5.595	0.294505	0.10567	.	.	ENSG00000153246	ENST00000283243	T	0.06218	3.33	5.84	3.13	0.36017	.	1.008390	0.07960	N	0.982246	T	0.07863	0.0197	L	0.48642	1.525	0.19300	N	0.99998	B;B	0.20052	0.027;0.041	B;B	0.13407	0.009;0.002	T	0.41179	-0.9523	10	0.31617	T	0.26	.	9.3965	0.38406	0.0:0.7318:0.0:0.2682	.	1433;1435	B7ZML4;Q13018	.;PLA2R_HUMAN	Q	1435	ENSP00000283243:R1435Q	ENSP00000283243:R1435Q	R	-	2	0	PLA2R1	160506623	0.006000	0.16342	0.000000	0.03702	0.204000	0.24138	1.449000	0.35123	0.413000	0.25759	-0.742000	0.03525	CGG		0.403	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1		
KCNH7	90134	broad.mit.edu	37	2	163361113	163361113	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:163361113A>T	ENST00000332142.5	-	6	1067	c.968T>A	c.(967-969)cTc>cAc	p.L323H	KCNH7_ENST00000328032.4_Missense_Mutation_p.L316H|KCNH7_ENST00000477019.1_5'UTR	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	323					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.L323H(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GTATTTGTTGAGGTTTGAATC	0.348																																					p.L316H	GBM(196;1492 2208 17507 24132 45496)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T947A	2						.						127.0	130.0	129.0					2																	163361113		2203	4300	6503	163069359	SO:0001583	missense	90134	exon5			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.968T>A	2.37:g.163361113A>T	ENSP00000331727:p.Leu323His		163069359	NM_173162	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.475299	0.84640	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.98987	-5.3;-5.3	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.98667	0.9553	L	0.38175	1.15	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71414	0.957;0.973	D	0.99923	1.1263	10	0.87932	D	0	.	15.9153	0.79512	1.0:0.0:0.0:0.0	.	316;323	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	H	323;316	ENSP00000331727:L323H;ENSP00000333781:L316H	ENSP00000333781:L316H	L	-	2	0	KCNH7	163069359	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.261000	0.95576	2.213000	0.71641	0.477000	0.44152	CTC		0.348	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272	
SCN2A	6326	broad.mit.edu	37	2	166188042	166188042	+	Silent	SNP	G	G	A	rs369101059		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:166188042G>A	ENST00000375437.2	+	14	2642	c.2352G>A	c.(2350-2352)acG>acA	p.T784T	SCN2A_ENST00000357398.3_Silent_p.T784T|SCN2A_ENST00000283256.6_Silent_p.T784T|SCN2A_ENST00000375427.2_Silent_p.T784T	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	784					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.T784T(3)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATCCCATGACGGAGCAGTTCA	0.433																																					p.T784T												.	.	3	Substitution - coding silent(3)	lung(2)|large_intestine(1)	c.G2352A	2						.						114.0	97.0	103.0					2																	166188042		2203	4300	6503	165896288	SO:0001819	synonymous_variant	6326	exon13			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.2352G>A	2.37:g.166188042G>A			165896288	NM_001040143	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	ENST00000375437.2	37	CCDS33314.1																																																																																				0.433	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007	
SCN7A	6332	broad.mit.edu	37	2	167289011	167289011	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:167289011A>T	ENST00000409855.1	-	15	2535	c.2409T>A	c.(2407-2409)gaT>gaA	p.D803E		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	803					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.D803E(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	CTTTGAGAAAATCTTGGGTGT	0.393																																					p.D803E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2409A	2						.						240.0	227.0	231.0					2																	167289011		1832	4077	5909	166997257	SO:0001583	missense	6332	exon15			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.2409T>A	2.37:g.167289011A>T	ENSP00000386796:p.Asp803Glu		166997257	NM_002976		Missense_Mutation	SNP	ENST00000409855.1	37	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	A	9.485	1.099151	0.20552	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992	D;D	0.82803	-1.65;-1.65	5.51	1.71	0.24356	Sodium ion transport-associated (1);	1.173820	0.06155	N	0.674926	T	0.79299	0.4422	L	0.46157	1.445	0.19300	N	0.999977	B	0.15719	0.014	B	0.20767	0.031	T	0.63752	-0.6566	10	0.48119	T	0.1	.	9.7399	0.40411	0.605:0.0:0.0:0.395	.	803	Q01118	SCN7A_HUMAN	E	803	ENSP00000386796:D803E;ENSP00000413699:D803E	ENSP00000259060:D803E	D	-	3	2	SCN7A	166997257	0.000000	0.05858	0.119000	0.21687	0.582000	0.36321	-0.740000	0.04861	0.131000	0.18576	0.459000	0.35465	GAT		0.393	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1		
LRP2	4036	broad.mit.edu	37	2	170103488	170103488	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:170103488C>T	ENST00000263816.3	-	21	3202	c.2917G>A	c.(2917-2919)Gcc>Acc	p.A973T	LRP2_ENST00000443831.1_Missense_Mutation_p.A836T	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	973	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.A973T(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TGATTACAGGCGTTAGAACCT	0.498																																					p.A973T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2917A	2						.						40.0	39.0	40.0					2																	170103488		2203	4300	6503	169811734	SO:0001583	missense	4036	exon21				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.2917G>A	2.37:g.170103488C>T	ENSP00000263816:p.Ala973Thr		169811734	NM_004525	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	5.298	0.240312	0.10023	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.94650	-2.62;-3.48	5.79	0.784	0.18578	Six-bladed beta-propeller, TolB-like (1);Epidermal growth factor-like (1);	0.547984	0.20946	N	0.082822	D	0.86008	0.5830	L	0.29908	0.895	0.09310	N	0.999998	P;P	0.47106	0.89;0.867	B;B	0.37198	0.243;0.151	T	0.78819	-0.2054	10	0.11485	T	0.65	.	9.2911	0.37786	0.5419:0.3937:0.0643:0.0	.	836;973	E9PC35;P98164	.;LRP2_HUMAN	T	973;836	ENSP00000263816:A973T;ENSP00000409813:A836T	ENSP00000263816:A973T	A	-	1	0	LRP2	169811734	1.000000	0.71417	0.007000	0.13788	0.347000	0.29111	1.265000	0.33027	-0.082000	0.12640	-0.262000	0.10625	GCC		0.498	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
LRP2	4036	broad.mit.edu	37	2	170139476	170139476	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:170139476G>T	ENST00000263816.3	-	10	1363	c.1078C>A	c.(1078-1080)Cag>Aag	p.Q360K	LRP2_ENST00000443831.1_Missense_Mutation_p.Q360K	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	360	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.Q360K(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TCACACTTCTGGTCACAAATT	0.433																																					p.Q360K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1078A	2						.						154.0	152.0	153.0					2																	170139476		2203	4300	6503	169847722	SO:0001583	missense	4036	exon10				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.1078C>A	2.37:g.170139476G>T	ENSP00000263816:p.Gln360Lys		169847722	NM_004525	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	31	5.096851	0.94197	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.87650	-2.28;-2.28	5.36	5.36	0.76844	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.93979	0.8072	M	0.82323	2.585	0.80722	D	1	D;D	0.76494	0.999;0.994	D;D	0.78314	0.991;0.968	D	0.93892	0.7180	9	.	.	.	.	19.1006	0.93272	0.0:0.0:1.0:0.0	.	360;360	E9PC35;P98164	.;LRP2_HUMAN	K	360	ENSP00000263816:Q360K;ENSP00000409813:Q360K	.	Q	-	1	0	LRP2	169847722	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.502000	0.97981	2.514000	0.84764	0.655000	0.94253	CAG		0.433	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
MYO3B	140469	broad.mit.edu	37	2	171240247	171240247	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:171240247C>T	ENST00000408978.4	+	12	1356	c.1213C>T	c.(1213-1215)Cgc>Tgc	p.R405C	MYO3B_ENST00000334231.6_Missense_Mutation_p.R414C|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.R405C	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	405	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)	p.S397_A406del(1)|p.R405C(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TGGGGTGAAACGCGCCTCCAA	0.458																																					p.R405C												.	.	2	Substitution - Missense(1)|Deletion - In frame(1)	ovary(1)|large_intestine(1)	c.C1213T	2						.						118.0	111.0	113.0					2																	171240247		1900	4109	6009	170948493	SO:0001583	missense	140469	exon12				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1213C>T	2.37:g.171240247C>T	ENSP00000386213:p.Arg405Cys		170948493	NM_001171642	B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.916792	0.73098	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41	5.9	5.9	0.94986	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.96030	0.8707	M	0.91768	3.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.988;0.975;0.996	D	0.96140	0.9099	10	0.87932	D	0	.	20.2626	0.98452	0.0:1.0:0.0:0.0	.	405;405;405	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	C	405;405;404;414;414	ENSP00000386497:R405C;ENSP00000386213:R405C;ENSP00000446237:R414C;ENSP00000335100:R414C	ENSP00000314213:R404C	R	+	1	0	MYO3B	170948493	1.000000	0.71417	1.000000	0.80357	0.375000	0.29983	5.865000	0.69583	2.802000	0.96397	0.650000	0.86243	CGC		0.458	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1		
TLK1	9874	broad.mit.edu	37	2	171902807	171902807	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:171902807C>T	ENST00000431350.2	-	11	1450	c.1046G>A	c.(1045-1047)cGc>cAc	p.R349H	TLK1_ENST00000521943.1_Missense_Mutation_p.R301H|TLK1_ENST00000442919.2_Missense_Mutation_p.R301H|TLK1_ENST00000360843.3_Missense_Mutation_p.R370H|TLK1_ENST00000434911.2_Missense_Mutation_p.R253H			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	349					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R301H(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						GGGAGGTTTGCGTTTGGCTAG	0.388																																					p.R349H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1046A	2						.						225.0	206.0	213.0					2																	171902807		2203	4300	6503	171611053	SO:0001583	missense	9874	exon11			AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.1046G>A	2.37:g.171902807C>T	ENSP00000411099:p.Arg349His		171611053	NM_012290	B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Missense_Mutation	SNP	ENST00000431350.2	37	CCDS2241.1	.	.	.	.	.	.	.	.	.	.	C	34	5.375772	0.95923	.	.	ENSG00000198586	ENST00000442919;ENST00000431350;ENST00000360843;ENST00000521943;ENST00000434911	T;T;T;T;T	0.65916	-0.15;-0.18;-0.17;-0.15;-0.15	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.81240	0.4781	M	0.84082	2.675	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.68943	0.915;0.961;0.915	D	0.83775	0.0222	10	0.87932	D	0	-26.4769	19.3879	0.94565	0.0:1.0:0.0:0.0	.	253;370;349	B4DX87;Q9UKI8-2;Q9UKI8	.;.;TLK1_HUMAN	H	301;349;370;301;253	ENSP00000402165:R301H;ENSP00000411099:R349H;ENSP00000354089:R370H;ENSP00000428113:R301H;ENSP00000409222:R253H	ENSP00000354089:R370H	R	-	2	0	TLK1	171611053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.652000	0.90054	0.591000	0.81541	CGC		0.388	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255314.1	NM_012290	
OSBPL6	114880	broad.mit.edu	37	2	179197478	179197478	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:179197478G>C	ENST00000190611.4	+	7	859	c.483G>C	c.(481-483)ttG>ttC	p.L161F	OSBPL6_ENST00000359685.3_Missense_Mutation_p.L161F|OSBPL6_ENST00000315022.2_Missense_Mutation_p.L140F|OSBPL6_ENST00000409631.1_Missense_Mutation_p.L161F|OSBPL6_ENST00000357080.4_Missense_Mutation_p.L161F|OSBPL6_ENST00000409045.3_Missense_Mutation_p.L161F|OSBPL6_ENST00000392505.2_Missense_Mutation_p.L161F	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	161	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.L161F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TCTATCATTTGAAGGTGAAAT	0.413																																					p.L161F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G483C	2						.						76.0	78.0	77.0					2																	179197478		2203	4300	6503	178905724	SO:0001583	missense	114880	exon7			AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.483G>C	2.37:g.179197478G>C	ENSP00000190611:p.Leu161Phe		178905724	NM_032523	B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	37	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462441	0.84425	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000357080;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T;T	0.34072	1.38;1.4;1.72;1.39;1.46;1.4;1.44	5.73	4.83	0.62350	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.62441	0.2428	M	0.82323	2.585	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999;1.0	D;D;D;D;D;D	0.91635	0.996;0.998;0.996;0.999;0.995;0.997	T	0.66548	-0.5896	10	0.87932	D	0	-11.186	14.0558	0.64767	0.1219:0.0:0.8781:0.0	.	161;140;161;161;161;161	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3;Q86V84	.;.;.;.;OSBL6_HUMAN;.	F	161;161;161;161;161;161;140	ENSP00000376293:L161F;ENSP00000352713:L161F;ENSP00000349591:L161F;ENSP00000387248:L161F;ENSP00000190611:L161F;ENSP00000386885:L161F;ENSP00000318723:L140F	ENSP00000190611:L161F	L	+	3	2	OSBPL6	178905724	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.339000	0.52135	2.861000	0.98227	0.655000	0.94253	TTG		0.413	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523	
TTN	7273	broad.mit.edu	37	2	179434772	179434772	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:179434772G>A	ENST00000591111.1	-	276	71388	c.71164C>T	c.(71164-71166)Cgc>Tgc	p.R23722C	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R22795C|TTN_ENST00000589042.1_Missense_Mutation_p.R25363C|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R16490C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R16298C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16423C|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23722	Fibronectin type-III 72. {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.R16490C(2)|p.R22793C(2)|p.R16298C(2)|p.R16423C(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)			ACTCTCAGGCGCAACTCTCCA	0.433																																					p.C16297C												.	.	7	Substitution - Missense(7)	large_intestine(7)	c.C48891T	2						.						109.0	102.0	104.0					2																	179434772		1946	4143	6089	179143018	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.71164C>T	2.37:g.179434772G>A	ENSP00000465570:p.Arg23722Cys		179143018	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	13.30	2.195572	0.38806	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	6.02	5.14	0.70334	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76615	0.4012	M	0.78801	2.425	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.69824	0.966;0.966;0.966;0.95	T	0.80636	-0.1294	9	0.87932	D	0	.	16.9005	0.86112	0.0:0.0:0.8712:0.1288	.	16298;16423;16490;23722	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	22795;16298;16490;16423;16296	ENSP00000343764:R22795C;ENSP00000434586:R16298C;ENSP00000340554:R16490C;ENSP00000352154:R16423C	ENSP00000340554:R16490C	R	-	1	0	TTN	179143018	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.766000	0.62279	1.522000	0.49001	0.650000	0.86243	CGC		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
MYT1L	23040	broad.mit.edu	37	2	1843123	1843123	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:1843123C>T	ENST00000399161.2	-	21	3625	c.2878G>A	c.(2878-2880)Gac>Aac	p.D960N	MYT1L_ENST00000471668.1_5'UTR|MYT1L_ENST00000407844.1_5'UTR|MYT1L_ENST00000428368.2_Missense_Mutation_p.D958N	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	960					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|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.D960N(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CCCTGGCCGTCGCACCCGGGG	0.622																																					p.D958N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2872A	2						.						39.0	46.0	44.0					2																	1843123		2016	4145	6161	1822130	SO:0001583	missense	23040	exon21			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2878G>A	2.37:g.1843123C>T	ENSP00000382114:p.Asp960Asn		1822130	NM_015025	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37		.	.	.	.	.	.	.	.	.	.	C	24.2	4.507349	0.85282	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000399157;ENST00000428368	T;T	0.54279	0.6;0.58	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.69842	0.3156	L	0.52573	1.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.69331	-0.5173	10	0.59425	D	0.04	-36.9015	19.9772	0.97314	0.0:1.0:0.0:0.0	.	960;958	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	N	960;906;14;958	ENSP00000382114:D960N;ENSP00000396103:D958N	ENSP00000295067:D906N	D	-	1	0	MYT1L	1822130	1.000000	0.71417	0.991000	0.47740	0.190000	0.23558	6.037000	0.70956	2.724000	0.93272	0.563000	0.77884	GAC		0.622	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025	
TTN	7273	broad.mit.edu	37	2	179641026	179641026	+	Silent	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:179641026C>A	ENST00000591111.1	-	28	5789	c.5565G>T	c.(5563-5565)ggG>ggT	p.G1855G	TTN_ENST00000360870.5_Silent_p.G1855G|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.G1855G|TTN_ENST00000589042.1_Silent_p.G1855G|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Silent_p.G1809G|TTN_ENST00000460472.2_Silent_p.G1809G|TTN_ENST00000359218.5_Silent_p.G1809G			Q8WZ42	TITIN_HUMAN	titin	12692	Ig-like 9.				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.G1809G(3)|p.G1855G(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGCAGTCTCCCCTTCAAGTA	0.488																																					p.G1855G												.	.	5	Substitution - coding silent(5)	large_intestine(5)	c.G5565T	2						.						194.0	189.0	191.0					2																	179641026		2203	4300	6503	179349271	SO:0001819	synonymous_variant	7273	exon28			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.5565G>T	2.37:g.179641026C>A			179349271	NM_133379	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
SDPR	8436	broad.mit.edu	37	2	192700759	192700759	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:192700759C>T	ENST00000304141.4	-	2	1497	c.1168G>A	c.(1168-1170)Gca>Aca	p.A390T		NM_004657.5	NP_004648.1			serum deprivation response									p.A390T(1)		NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			ACCTTCTGTGCCTGTTCCAGG	0.607																																					p.A390T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1168A	2						.						118.0	108.0	112.0					2																	192700759		2203	4300	6503	192409004	SO:0001583	missense	8436	exon2			AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"""phosphatidylserine binding protein"""	606728	"""serum deprivation response (phosphatidylserine-binding protein)"", ""serum deprivation response (phosphatidylserine binding protein)"""			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.1168G>A	2.37:g.192700759C>T	ENSP00000305675:p.Ala390Thr		192409004	NM_004657		Missense_Mutation	SNP	ENST00000304141.4	37	CCDS2313.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.799798	0.50208	.	.	ENSG00000168497	ENST00000304141	T	0.65178	-0.14	5.12	4.17	0.49024	.	0.701509	0.14278	N	0.329718	T	0.54431	0.1858	L	0.51422	1.61	0.09310	N	0.999995	P	0.34724	0.465	B	0.31101	0.124	T	0.51857	-0.8652	10	0.44086	T	0.13	-8.3692	12.873	0.57975	0.2054:0.7946:0.0:0.0	.	390	O95810	SDPR_HUMAN	T	390	ENSP00000305675:A390T	ENSP00000305675:A390T	A	-	1	0	SDPR	192409004	0.038000	0.19896	0.876000	0.34364	0.427000	0.31564	0.044000	0.13992	2.675000	0.91044	0.462000	0.41574	GCA		0.607	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	NM_004657	
ANKRD44	91526	broad.mit.edu	37	2	197878240	197878240	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:197878240G>T	ENST00000328737.2	-	18	1920	c.1844C>A	c.(1843-1845)gCc>gAc	p.A615D	ANKRD44_ENST00000282272.8_Missense_Mutation_p.A632D|ANKRD44_ENST00000450567.1_Missense_Mutation_p.A615D|ANKRD44_ENST00000337207.5_Missense_Mutation_p.A615D			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	640								p.A615D(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CCTACCTGAGGCATGAAGTGG	0.433																																					p.A640D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1919A	2						.						163.0	155.0	158.0					2																	197878240		2203	4300	6503	197586485	SO:0001583	missense	91526	exon18			AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.1844C>A	2.37:g.197878240G>T	ENSP00000331516:p.Ala615Asp		197586485	NM_001195144	Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000328737.2	37		.	.	.	.	.	.	.	.	.	.	G	22.8	4.341835	0.81911	.	.	ENSG00000065413	ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000422886	T;T;T;T;T;T	0.71934	-0.15;-0.61;-0.15;-0.15;-0.15;1.03	4.43	4.43	0.53597	.	0.282481	0.31648	N	0.007281	T	0.80270	0.4592	L	0.45744	1.44	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82676	-0.0339	10	0.72032	D	0.01	.	17.2648	0.87083	0.0:0.0:1.0:0.0	.	658	Q8N8A2-2	.	D	455;632;615;615;615;315	ENSP00000403415:A455D;ENSP00000282272:A632D;ENSP00000331516:A615D;ENSP00000402420:A615D;ENSP00000338794:A615D;ENSP00000416319:A315D	ENSP00000282272:A632D	A	-	2	0	ANKRD44	197586485	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.135000	0.64777	2.294000	0.77228	0.655000	0.94253	GCC		0.433	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697	
MPP4	58538	broad.mit.edu	37	2	202552079	202552079	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:202552079G>A	ENST00000409474.3	-	5	502	c.295C>T	c.(295-297)Cgt>Tgt	p.R99C	MPP4_ENST00000409143.1_Intron|MPP4_ENST00000315506.7_Missense_Mutation_p.R99C|MPP4_ENST00000396886.3_Missense_Mutation_p.R99C|MPP4_ENST00000447335.2_Missense_Mutation_p.R99C|MPP4_ENST00000359962.5_Missense_Mutation_p.R99C|MPP4_ENST00000428900.2_Missense_Mutation_p.R99C	NM_033066.2	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	99	L27 2. {ECO:0000255|PROSITE- ProRule:PRU00365}.				protein localization to synapse (GO:0035418)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)		p.R99C(1)		kidney(1)|lung(11)	12						GGGGTTTCACGTAATAACTCC	0.408																																					p.R99C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C295T	2						.						74.0	70.0	71.0					2																	202552079		1824	4083	5907	202260324	SO:0001583	missense	58538	exon5			AF316032	CCDS46491.1	2q33.2	2008-05-15			ENSG00000082126	ENSG00000082126			13680	protein-coding gene	gene with protein product		606575		DLG6		11414766	Standard	NM_033066		Approved		uc002uyk.4	Q96JB8	OTTHUMG00000154525	ENST00000409474.3:c.295C>T	2.37:g.202552079G>A	ENSP00000387278:p.Arg99Cys		202260324	NM_033066	C9IZK4|Q53TT3|Q6ZNH6|Q96Q43|Q96Q44	Missense_Mutation	SNP	ENST00000409474.3	37	CCDS46491.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.769432	0.31320	.	.	ENSG00000082126	ENST00000409474;ENST00000315506;ENST00000396886;ENST00000359962;ENST00000315549;ENST00000428900;ENST00000447335	T;T;T;T;T	0.05513	3.43;3.43;3.43;3.44;3.43	5.97	2.41	0.29592	L27, C-terminal (1);L27 (2);	1.206650	0.05650	N	0.585067	T	0.11196	0.0273	M	0.76574	2.34	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.21606	0.021;0.035;0.058;0.028;0.035;0.047;0.051;0.035;0.058	B;B;B;B;B;B;B;B;B	0.21151	0.009;0.011;0.027;0.007;0.007;0.016;0.01;0.007;0.033	T	0.36529	-0.9744	10	0.66056	D	0.02	.	6.2063	0.20604	0.0869:0.1215:0.6656:0.126	.	99;99;99;99;99;99;112;99;99	B4DUF3;E7ET46;B7ZM19;Q96JB8-2;E7EUL8;F8WC25;F8WBH8;Q96JB8;Q96JB8-4	.;.;.;.;.;.;.;MPP4_HUMAN;.	C	99	ENSP00000387278:R99C;ENSP00000319363:R99C;ENSP00000353047:R99C;ENSP00000416781:R99C;ENSP00000406160:R99C	ENSP00000319363:R99C	R	-	1	0	MPP4	202260324	0.066000	0.20996	0.000000	0.03702	0.005000	0.04900	1.131000	0.31406	0.253000	0.21552	0.655000	0.94253	CGT		0.408	MPP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335748.2		
ALS2	57679	broad.mit.edu	37	2	202569207	202569207	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:202569207G>A	ENST00000264276.6	-	32	5180	c.4808C>T	c.(4807-4809)cCt>cTt	p.P1603L	ALS2_ENST00000457679.2_3'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1603	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.P1603L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TAAGAAAACAGGAAACAAGTC	0.423																																					p.P1603L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4808T	2						.						96.0	87.0	90.0					2																	202569207		1875	4126	6001	202277452	SO:0001583	missense	57679	exon32			AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.4808C>T	2.37:g.202569207G>A	ENSP00000264276:p.Pro1603Leu		202277452	NM_020919	Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.381227	0.82792	.	.	ENSG00000003393	ENST00000264276	T	0.65178	-0.14	5.53	5.53	0.82687	Vacuolar sorting protein 9 (2);	0.000000	0.85682	D	0.000000	D	0.82522	0.5055	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84560	0.0649	10	0.87932	D	0	.	19.8372	0.96661	0.0:0.0:1.0:0.0	.	1603	Q96Q42	ALS2_HUMAN	L	1603	ENSP00000264276:P1603L	ENSP00000264276:P1603L	P	-	2	0	ALS2	202277452	1.000000	0.71417	0.998000	0.56505	0.381000	0.30169	9.813000	0.99286	2.770000	0.95276	0.655000	0.94253	CCT		0.423	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919	
FZD7	8324	broad.mit.edu	37	2	202900843	202900843	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:202900843C>T	ENST00000286201.1	+	1	1534	c.1473C>T	c.(1471-1473)taC>taT	p.Y491Y	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	491					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.Y491Y(1)		breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						GCTACTTCTACGAGCAGGCCT	0.657											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Y491Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1473T	2						.						55.0	50.0	52.0					2																	202900843		2203	4300	6503	202609088	SO:0001819	synonymous_variant	8324	exon1			AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"""GPCR / Class F : Frizzled receptors"""	4045	protein-coding gene	gene with protein product		603410	"""frizzled (Drosophila) homolog 7"", ""frizzled homolog 7 (Drosophila)"", ""frizzled 7, seven transmembrane spanning receptor"", ""frizzled family receptor 7"""			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.1473C>T	2.37:g.202900843C>T		2133	202609088	NM_003507	O94816|Q53S59|Q96B74	Silent	SNP	ENST00000286201.1	37	CCDS2351.1																																																																																				0.657	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507	
NDUFS1	4719	broad.mit.edu	37	2	207014648	207014648	+	Splice_Site	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:207014648G>T	ENST00000233190.6	-	4	421	c.155C>A	c.(154-156)gCt>gAt	p.A52D	NDUFS1_ENST00000457011.1_Intron|NDUFS1_ENST00000455934.2_Splice_Site_p.A66D|NDUFS1_ENST00000432169.1_Intron|NDUFS1_ENST00000423725.1_5'UTR|NDUFS1_ENST00000440274.1_Intron|NDUFS1_ENST00000449699.1_Splice_Site_p.A52D	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	52	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.				apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.A52D(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTTCTCACAAGCCTAGAAGTa	0.368																																					p.A52D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C155A	2						.						81.0	82.0	82.0					2																	207014648		2203	4300	6503	206722893	SO:0001630	splice_region_variant	4719	exon4				CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7707	protein-coding gene	gene with protein product	"""complex I 75kDa subunit"", ""NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"""	157655	"""NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"""			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.154-1C>A	2.37:g.207014648G>T			206722893	NM_005006	B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Missense_Mutation	SNP	ENST00000233190.6	37	CCDS2366.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.670169	0.67814	.	.	ENSG00000023228	ENST00000233190;ENST00000455934;ENST00000449699;ENST00000454195	D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95	5.68	5.68	0.88126	Beta-grasp fold, ferredoxin-type (1);Ferredoxin (3);	0.114766	0.64402	D	0.000014	D	0.96667	0.8912	H	0.99859	4.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98490	1.0609	10	0.87932	D	0	-13.8092	19.7838	0.96428	0.0:0.0:1.0:0.0	.	66;52	B4DJA0;P28331	.;NDUS1_HUMAN	D	52;66;52;52	ENSP00000233190:A52D;ENSP00000392709:A66D;ENSP00000399912:A52D;ENSP00000389413:A52D	ENSP00000233190:A52D	A	-	2	0	NDUFS1	206722893	1.000000	0.71417	0.999000	0.59377	0.060000	0.15804	9.675000	0.98638	2.664000	0.90586	0.650000	0.86243	GCT		0.368	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4	NM_005006	Missense_Mutation
PIKFYVE	200576	broad.mit.edu	37	2	209214769	209214769	+	Missense_Mutation	SNP	C	C	T	rs147015179		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:209214769C>T	ENST00000264380.4	+	36	5554	c.5396C>T	c.(5395-5397)aCa>aTa	p.T1799I		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1799	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.T1799I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GGAGGAGATACACAAAAGAAG	0.348													C|||	1	0.000199681	0.0	0.0014	5008	,	,		13680	0.0		0.0	False		,,,				2504	0.0				p.T1799I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5396T	2						.	C	ILE/THR	1,4405	2.1+/-5.4	0,1,2202	115.0	117.0	116.0		5396	4.9	1.0	2	dbSNP_134	116	0,8598		0,0,4299	no	missense	PIKFYVE	NM_015040.3	89	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign	1799/2099	209214769	1,13003	2203	4299	6502	208923014	SO:0001583	missense	200576	exon36			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.5396C>T	2.37:g.209214769C>T	ENSP00000264380:p.Thr1799Ile		208923014	NM_015040	Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	CCDS2382.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	14.04	2.417161	0.42918	2.27E-4	0.0	ENSG00000115020	ENST00000264380	T	0.29397	1.57	5.75	4.87	0.63330	Phosphatidylinositol-4-phosphate 5-kinase, core (1);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.527367	0.21560	N	0.072593	T	0.16685	0.0401	N	0.14661	0.345	0.80722	D	1	B	0.17038	0.02	B	0.15484	0.013	T	0.07195	-1.0785	10	0.37606	T	0.19	0.2043	6.1812	0.20472	0.1366:0.6582:0.1323:0.0728	.	1799	Q9Y2I7	FYV1_HUMAN	I	1799	ENSP00000264380:T1799I	ENSP00000264380:T1799I	T	+	2	0	PIKFYVE	208923014	0.996000	0.38824	0.959000	0.39883	0.981000	0.71138	2.550000	0.45811	1.436000	0.47453	0.655000	0.94253	ACA		0.348	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040	
PTH2R	5746	broad.mit.edu	37	2	209315505	209315505	+	Silent	SNP	T	T	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:209315505T>G	ENST00000272847.2	+	8	1098	c.885T>G	c.(883-885)gcT>gcG	p.A295A	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	295					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)	p.A295A(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	CAGCATGGGCTGTGGCACGAG	0.448																																					p.A295A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T885G	2						.						101.0	112.0	108.0					2																	209315505		2203	4300	6503	209023750	SO:0001819	synonymous_variant	5746	exon8			BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"""GPCR / Class B : Parathyroid hormone receptors"""	9609	protein-coding gene	gene with protein product		601469	"""parathyroid hormone receptor 2"""	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.885T>G	2.37:g.209315505T>G			209023750	NM_005048	Q8N429	Silent	SNP	ENST00000272847.2	37	CCDS2383.1																																																																																				0.448	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048	
SPAG16	79582	broad.mit.edu	37	2	215274949	215274949	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:215274949C>T	ENST00000331683.5	+	16	1901	c.1806C>T	c.(1804-1806)caC>caT	p.H602H	VWC2L_ENST00000427124.1_5'Flank|SPAG16_ENST00000374309.3_Silent_p.H508H|AC107218.3_ENST00000412896.1_RNA|VWC2L_ENST00000312504.5_5'Flank|AC107218.3_ENST00000437883.1_RNA	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	602					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.H602H(1)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TGATGGGCCACGAAAACGAGG	0.502																																					p.H602H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1806T	2						.						131.0	126.0	128.0					2																	215274949		2203	4300	6503	214983194	SO:0001819	synonymous_variant	79582	exon16			AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.1806C>T	2.37:g.215274949C>T			214983194	NM_024532	Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Silent	SNP	ENST00000331683.5	37	CCDS2396.1																																																																																				0.502	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532	
VWC2L	402117	broad.mit.edu	37	2	215301418	215301418	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:215301418C>T	ENST00000312504.5	+	3	1258	c.456C>T	c.(454-456)tgC>tgT	p.C152C	VWC2L_ENST00000427124.1_Intron|AC107218.3_ENST00000412896.1_RNA|AC107218.3_ENST00000437883.1_RNA	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	152	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of neuron differentiation (GO:0045666)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)		p.C152C(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						TAGCAGACTGCGCAGTTCCTG	0.463																																					p.C152C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C456T	2						.						114.0	112.0	113.0					2																	215301418		2019	4179	6198	215009663	SO:0001819	synonymous_variant	402117	exon3			AB374231	CCDS46509.1	2q34-q35	2011-01-25	2011-01-25		ENSG00000174453	ENSG00000174453			37203	protein-coding gene	gene with protein product			"""von Willebrand factor C domain-containing protein 2-like"""				Standard	NM_001080500		Approved		uc002vet.2	B2RUY7	OTTHUMG00000154811	ENST00000312504.5:c.456C>T	2.37:g.215301418C>T			215009663	NM_001080500	A6NC69|B2RUW7|B7X8X1	Silent	SNP	ENST00000312504.5	37	CCDS46509.1																																																																																				0.463	VWC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337175.1	NM_001080500	
FN1	2335	broad.mit.edu	37	2	216299496	216299496	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:216299496C>T	ENST00000359671.1	-	2	465	c.200G>A	c.(199-201)cGg>cAg	p.R67Q	FN1_ENST00000357867.4_Missense_Mutation_p.R67Q|FN1_ENST00000446046.1_Missense_Mutation_p.R67Q|FN1_ENST00000443816.1_Missense_Mutation_p.R67Q|FN1_ENST00000356005.4_Missense_Mutation_p.R67Q|FN1_ENST00000354785.4_Missense_Mutation_p.R67Q|FN1_ENST00000345488.5_Missense_Mutation_p.R67Q|FN1_ENST00000323926.6_Missense_Mutation_p.R67Q|FN1_ENST00000432072.2_Missense_Mutation_p.R67Q|FN1_ENST00000336916.4_Missense_Mutation_p.R67Q|FN1_ENST00000346544.3_Missense_Mutation_p.R67Q|FN1_ENST00000426059.1_Missense_Mutation_p.R67Q|FN1_ENST00000421182.1_Missense_Mutation_p.R67Q|FN1_ENST00000357009.2_Missense_Mutation_p.R67Q|AC012462.1_ENST00000412951.1_RNA			P02751	FINC_HUMAN	fibronectin 1	67	Fibrin- and heparin-binding 1.|Fibronectin type-I 1. {ECO:0000255|PROSITE-ProRule:PRU00478}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.R67Q(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TAGGTAGGTCCGCTCCCACTG	0.428																																					p.R67Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G200A	2						.						224.0	201.0	209.0					2																	216299496		2203	4300	6503	216007741	SO:0001583	missense	2335	exon2				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.200G>A	2.37:g.216299496C>T	ENSP00000352696:p.Arg67Gln		216007741	NM_212476	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37		.	.	.	.	.	.	.	.	.	.	C	35	5.499689	0.96355	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000004	T	0.76814	0.4040	L	0.50333	1.59	0.80722	D	1	D;D;P;P;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.789;0.909;0.999;0.999;1.0;0.999;0.999;0.999;0.999	D;D;B;P;P;D;D;D;P;P;D	0.78314	0.961;0.988;0.3;0.567;0.896;0.937;0.973;0.914;0.896;0.896;0.991	T	0.75193	-0.3404	10	0.56958	D	0.05	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	67;67;67;67;67;67;67;67;67;67;67	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	Q	67	ENSP00000394423:R67Q;ENSP00000323534:R67Q;ENSP00000338200:R67Q;ENSP00000350534:R67Q;ENSP00000346839:R67Q;ENSP00000352696:R67Q;ENSP00000265312:R67Q;ENSP00000273049:R67Q;ENSP00000349509:R67Q;ENSP00000410422:R67Q;ENSP00000415018:R67Q;ENSP00000399538:R67Q;ENSP00000348285:R67Q;ENSP00000398907:R67Q	ENSP00000265313:R67Q	R	-	2	0	FN1	216007741	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.519000	0.60517	2.882000	0.98803	0.655000	0.94253	CGG		0.428	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476	
CXCR1	3577	broad.mit.edu	37	2	219029709	219029709	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:219029709C>T	ENST00000295683.2	-	2	346	c.226G>A	c.(226-228)Gtc>Atc	p.V76I		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	76					cell surface receptor signaling pathway (GO:0007166)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|receptor internalization (GO:0031623)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)	p.V76I(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13					Ketoprofen(DB01009)	AGCAGGTAGACATCAGTGACG	0.572																																					p.V76I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G226A	2						.						153.0	143.0	146.0					2																	219029709		2203	4300	6503	218737954	SO:0001583	missense	3577	exon2			U11870	CCDS2409.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000163464	ENSG00000163464		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6026	protein-coding gene	gene with protein product		146929	"""interleukin 8 receptor, alpha"""	CMKAR1, IL8RA		1303245, 1427896	Standard	NM_000634		Approved	CKR-1, CDw128a, CD181	uc002vhc.3	P25024	OTTHUMG00000133108	ENST00000295683.2:c.226G>A	2.37:g.219029709C>T	ENSP00000295683:p.Val76Ile		218737954	NM_000634	B2R6Q3|Q2YEF8|Q2YEG4|Q2YEG5|Q2YEG7|Q2YEG8|Q53R18|Q6IN95|Q8N6T6|Q9P2T8|Q9P2T9|Q9P2U0|Q9P2U1|Q9P2U2	Missense_Mutation	SNP	ENST00000295683.2	37	CCDS2409.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.428358	0.25726	.	.	ENSG00000163464	ENST00000295683;ENST00000421691	T	0.70749	-0.51	5.21	1.94	0.25998	GPCR, rhodopsin-like superfamily (1);	0.502707	0.22071	N	0.065028	T	0.48624	0.1510	N	0.13198	0.31	0.25653	N	0.986076	B	0.02656	0.0	B	0.17722	0.019	T	0.28933	-1.0028	10	0.20046	T	0.44	.	8.9416	0.35733	0.0:0.6443:0.0:0.3557	.	76	P25024	CXCR1_HUMAN	I	76	ENSP00000295683:V76I	ENSP00000295683:V76I	V	-	1	0	CXCR1	218737954	0.002000	0.14202	0.732000	0.30844	0.635000	0.38103	-0.079000	0.11357	0.578000	0.29487	0.655000	0.94253	GTC		0.572	CXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256773.2	NM_000634	
PLCD4	84812	broad.mit.edu	37	2	219494296	219494296	+	Missense_Mutation	SNP	C	C	A	rs550691262	byFrequency	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:219494296C>A	ENST00000450993.2	+	8	1368	c.1029C>A	c.(1027-1029)agC>agA	p.S343R	PLCD4_ENST00000432688.1_Missense_Mutation_p.S343R|PLCD4_ENST00000417849.1_Missense_Mutation_p.S343R	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	343	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.S343R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		ATGGACCTAGCGGGGAACCTG	0.577																																					p.S343R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1029A	2						.						75.0	81.0	79.0					2																	219494296		2087	4200	6287	219202540	SO:0001583	missense	84812	exon8			AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"""EF-hand domain containing"""	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.1029C>A	2.37:g.219494296C>A	ENSP00000388631:p.Ser343Arg		219202540	NM_032726	Q53FS8	Missense_Mutation	SNP	ENST00000450993.2	37	CCDS46516.1	.	.	.	.	.	.	.	.	.	.	T	13.96	2.394327	0.42410	.	.	ENSG00000115556	ENST00000450993;ENST00000251959;ENST00000417849;ENST00000432688	T;T;T	0.53206	0.63;0.63;0.63	5.19	-4.0	0.04057	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.330439	0.37530	N	0.002046	T	0.37865	0.1019	N	0.19112	0.55	0.20764	N	0.999853	P	0.34587	0.458	P	0.44597	0.454	T	0.43589	-0.9382	10	0.56958	D	0.05	.	14.8678	0.70430	0.0:0.5004:0.0:0.4996	.	343	Q9BRC7	PLCD4_HUMAN	R	343	ENSP00000388631:S343R;ENSP00000396942:S343R;ENSP00000396185:S343R	ENSP00000251959:S343R	S	+	3	2	PLCD4	219202540	0.000000	0.05858	0.038000	0.18304	0.980000	0.70556	-1.356000	0.02609	-1.306000	0.02324	-0.361000	0.07541	AGC		0.577	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1		
GMPPA	29926	broad.mit.edu	37	2	220368859	220368859	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:220368859G>A	ENST00000358215.3	+	7	913	c.544G>A	c.(544-546)Ggc>Agc	p.G182S	AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373908.1_Missense_Mutation_p.G182S|GMPPA_ENST00000373917.3_Missense_Mutation_p.G182S|GMPPA_ENST00000313597.5_Missense_Mutation_p.G182S|GMPPA_ENST00000341142.3_Missense_Mutation_p.G182S	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	182			G -> D (in AAMR; drastically reduced protein expression in fibroblasts and altered subcellular location; no effect on transferrin N-glycosylation profile). {ECO:0000269|PubMed:24035193}.		cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotidyltransferase activity (GO:0016779)	p.G182S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		CATCAACTGCGGCATCTACCT	0.522																																					p.G182S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G544A	2						.						247.0	217.0	227.0					2																	220368859		2203	4300	6503	220077103	SO:0001583	missense	29926	exon7			AF135422	CCDS2441.1	2q36.1	2008-02-05			ENSG00000144591	ENSG00000144591			22923	protein-coding gene	gene with protein product		615495					Standard	NM_205847		Approved		uc002vlr.3	Q96IJ6	OTTHUMG00000058922	ENST00000358215.3:c.544G>A	2.37:g.220368859G>A	ENSP00000350949:p.Gly182Ser		220077103	NM_205847	A6NJ74|A8K3Q6|B3KMT4|Q53GI0|Q9NWC3|Q9Y5P5	Missense_Mutation	SNP	ENST00000358215.3	37	CCDS2441.1	.	.	.	.	.	.	.	.	.	.	G	33	5.222597	0.95139	.	.	ENSG00000144591	ENST00000313597;ENST00000373917;ENST00000358215;ENST00000373908;ENST00000435316;ENST00000341142;ENST00000373924	D;D;D;D;D;D	0.97665	-4.48;-4.48;-4.48;-4.48;-1.55;-4.48	5.46	5.46	0.80206	Nucleotidyl transferase (1);	0.000000	0.85682	D	0.000000	D	0.99133	0.9701	H	0.98199	4.17	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.70935	0.97;0.971	D	0.99066	1.0832	10	0.87932	D	0	-32.396	18.9331	0.92574	0.0:0.0:1.0:0.0	.	182;182	Q96IJ6-2;Q96IJ6	.;GMPPA_HUMAN	S	182;182;182;182;147;182;112	ENSP00000315925:G182S;ENSP00000363027:G182S;ENSP00000350949:G182S;ENSP00000363016:G182S;ENSP00000411060:G147S;ENSP00000340760:G182S	ENSP00000315925:G182S	G	+	1	0	GMPPA	220077103	1.000000	0.71417	0.956000	0.39512	0.616000	0.37450	9.686000	0.98664	2.557000	0.86248	0.655000	0.94253	GGC		0.522	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130230.1	NM_013335	
OBSL1	23363	broad.mit.edu	37	2	220432993	220432993	+	Missense_Mutation	SNP	C	C	T	rs369090547		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:220432993C>T	ENST00000404537.1	-	2	1122	c.1066G>A	c.(1066-1068)Ggg>Agg	p.G356R	OBSL1_ENST00000289656.3_5'UTR|OBSL1_ENST00000603926.1_Missense_Mutation_p.G356R|OBSL1_ENST00000491370.1_5'Flank|OBSL1_ENST00000265318.4_Missense_Mutation_p.G356R|OBSL1_ENST00000373873.4_Missense_Mutation_p.G356R|OBSL1_ENST00000373876.1_Missense_Mutation_p.G356R	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	356	Ig-like 4.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)	p.G356R(1)					Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		ACGGCAATCCCGTGCTCACGG	0.652											OREG0003988	type=REGULATORY REGION|Gene=OBSL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.G356R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1066A	2						.	C	ARG/GLY,ARG/GLY,ARG/GLY	1,3845		0,1,1922	19.0	23.0	22.0		1066,1066,1066	5.2	0.9	2		22	0,8240		0,0,4120	no	missense,missense,missense	OBSL1	NM_001173408.1,NM_001173431.1,NM_015311.2	125,125,125	0,1,6042	TT,TC,CC		0.0,0.026,0.0083	probably-damaging,probably-damaging,probably-damaging	356/1026,356/1544,356/1897	220432993	1,12085	1923	4120	6043	220141237	SO:0001583	missense	23363	exon2			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.1066G>A	2.37:g.220432993C>T	ENSP00000385636:p.Gly356Arg	2266	220141237	NM_001173431	A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707941	0.68615	2.6E-4	0.0	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873	T;T;T;T	0.04970	3.52;3.52;3.52;3.52	5.17	5.17	0.71159	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.14830	0.0358	L	0.33792	1.035	0.33976	D	0.647389	D;D	0.89917	1.0;0.998	D;P	0.97110	1.0;0.873	T	0.11155	-1.0599	9	0.26408	T	0.33	.	13.9612	0.64180	0.0:0.7264:0.2736:0.0	.	356;356	O75147;O75147-2	OBSL1_HUMAN;.	R	356	ENSP00000265318:G356R;ENSP00000385636:G356R;ENSP00000362983:G356R;ENSP00000362980:G356R	ENSP00000265318:G356R	G	-	1	0	OBSL1	220141237	0.984000	0.35163	0.936000	0.37596	0.987000	0.75469	2.910000	0.48766	2.694000	0.91930	0.650000	0.86243	GGG		0.652	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1		
ACSL3	2181	broad.mit.edu	37	2	223783804	223783804	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:223783804G>A	ENST00000357430.3	+	7	1220	c.689G>A	c.(688-690)cGc>cAc	p.R230H	ACSL3_ENST00000392066.3_Missense_Mutation_p.R230H|AC097461.4_ENST00000446709.1_RNA	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	230					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.R230H(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TTGGTCCCACGCCTGCGGCAC	0.468			T	ETV1	prostate																																p.R230H			Dom	yes		2	2q36	2181	acyl-CoA synthetase long-chain family member 3		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G689A	2						.						115.0	98.0	104.0					2																	223783804		2203	4300	6503	223492048	SO:0001583	missense	2181	exon7			D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"""Acyl-CoA synthetase family"""	3570	protein-coding gene	gene with protein product		602371	"""fatty-acid-Coenzyme A ligase, long-chain 3"""	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.689G>A	2.37:g.223783804G>A	ENSP00000350012:p.Arg230His		223492048	NM_004457	Q60I92|Q8IUM9	Missense_Mutation	SNP	ENST00000357430.3	37	CCDS2455.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.492187	0.44352	.	.	ENSG00000123983	ENST00000357430;ENST00000392066;ENST00000540115	T;T;T	0.42131	0.98;0.98;0.98	5.65	4.58	0.56647	AMP-dependent synthetase/ligase (1);	0.048899	0.85682	D	0.000000	T	0.22704	0.0548	N	0.14661	0.345	0.19300	N	0.999971	B	0.17038	0.02	B	0.15484	0.013	T	0.10917	-1.0609	10	0.15952	T	0.53	-4.0856	9.4185	0.38536	0.081:0.0:0.6677:0.2513	.	230	O95573	ACSL3_HUMAN	H	230;230;78	ENSP00000350012:R230H;ENSP00000375918:R230H;ENSP00000441643:R78H	ENSP00000350012:R230H	R	+	2	0	ACSL3	223492048	0.593000	0.26840	0.943000	0.38184	0.952000	0.60782	2.330000	0.43885	2.668000	0.90789	0.655000	0.94253	CGC		0.468	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457	
IRS1	3667	broad.mit.edu	37	2	227662085	227662085	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:227662085C>T	ENST00000305123.5	-	1	2390	c.1370G>A	c.(1369-1371)cGc>cAc	p.R457H	IRS1_ENST00000498335.1_5'Flank|RP11-395N3.2_ENST00000607970.1_lincRNA	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	457					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.R457H(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CTCCTCACCGCGGGCTGGTGG	0.602											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R457H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1370A	2						.						75.0	87.0	83.0					2																	227662085		2203	4300	6503	227370329	SO:0001583	missense	3667	exon1				CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.1370G>A	2.37:g.227662085C>T	ENSP00000304895:p.Arg457His	2321	227370329	NM_005544		Missense_Mutation	SNP	ENST00000305123.5	37	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.513994	0.64522	.	.	ENSG00000169047	ENST00000305123	T	0.61627	0.09	5.12	5.12	0.69794	.	0.000000	0.41294	D	0.000915	T	0.74997	0.3790	M	0.72118	2.19	0.40061	D	0.975894	D	0.89917	1.0	D	0.73708	0.981	T	0.78828	-0.2050	10	0.72032	D	0.01	-20.7269	16.727	0.85424	0.0:1.0:0.0:0.0	.	457	P35568	IRS1_HUMAN	H	457	ENSP00000304895:R457H	ENSP00000304895:R457H	R	-	2	0	IRS1	227370329	1.000000	0.71417	0.854000	0.33618	0.974000	0.67602	4.445000	0.60007	2.381000	0.81170	0.561000	0.74099	CGC		0.602	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544	
SPHKAP	80309	broad.mit.edu	37	2	228881458	228881458	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:228881458G>A	ENST00000392056.3	-	7	4158	c.4112C>T	c.(4111-4113)cCg>cTg	p.P1371L	SPHKAP_ENST00000344657.5_Missense_Mutation_p.P1371L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1371						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.P1371L(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GTCTTTCCTCGGGCAATCGAG	0.483																																					p.P1371L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4112T	2						.						74.0	73.0	73.0					2																	228881458		2203	4300	6503	228589702	SO:0001583	missense	80309	exon7				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4112C>T	2.37:g.228881458G>A	ENSP00000375909:p.Pro1371Leu		228589702	NM_001142644	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109575	0.37242	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.11385	2.78;2.78	5.66	3.79	0.43588	.	0.666605	0.15876	N	0.240295	T	0.13030	0.0316	L	0.60455	1.87	0.09310	N	1	P;D;P	0.60160	0.618;0.987;0.903	B;B;B	0.40165	0.058;0.321;0.172	T	0.07908	-1.0748	10	0.48119	T	0.1	.	13.7887	0.63126	0.0:0.0:0.7118:0.2882	.	402;1371;1371	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	L	1371	ENSP00000375909:P1371L;ENSP00000339886:P1371L	ENSP00000339886:P1371L	P	-	2	0	SPHKAP	228589702	0.165000	0.22948	0.011000	0.14972	0.146000	0.21551	1.795000	0.38784	0.667000	0.31107	0.655000	0.94253	CCG		0.483	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623	
TRIP12	9320	broad.mit.edu	37	2	230654397	230654397	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:230654397G>A	ENST00000283943.5	-	30	4578	c.4400C>T	c.(4399-4401)cCg>cTg	p.P1467L	TRIP12_ENST00000389045.3_Missense_Mutation_p.P1197L|TRIP12_ENST00000389044.4_Missense_Mutation_p.P1515L	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1467					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)	p.P1467L(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		ATCTAATGACGGGTCTTCAAA	0.353																																					p.P1467L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4400T	2						.						181.0	176.0	178.0					2																	230654397		2203	4300	6503	230362641	SO:0001583	missense	9320	exon30			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.4400C>T	2.37:g.230654397G>A	ENSP00000283943:p.Pro1467Leu		230362641	NM_004238	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	G	32	5.125032	0.94429	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.49720	0.77;1.13;0.78	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.70456	0.3226	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.76575	0.988;0.887;0.988	T	0.71371	-0.4613	10	0.87932	D	0	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	1197;1515;1467	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	L	1467;1197;1515	ENSP00000283943:P1467L;ENSP00000373697:P1197L;ENSP00000373696:P1515L	ENSP00000283943:P1467L	P	-	2	0	TRIP12	230362641	1.000000	0.71417	0.996000	0.52242	0.973000	0.67179	9.434000	0.97515	2.793000	0.96121	0.655000	0.94253	CCG		0.353	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238	
NCL	4691	broad.mit.edu	37	2	232325576	232325576	+	Splice_Site	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:232325576G>T	ENST00000322723.4	-	4	855	c.615C>A	c.(613-615)gaC>gaA	p.D205E	SNORD82_ENST00000365530.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	205	Asp/Glu-rich (acidic).				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)	p.D205E(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		CTTCTTCAGAGTCTGAAAGAG	0.408																																					p.D205E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C615A	2						.						112.0	110.0	110.0					2																	232325576		2203	4300	6503	232033820	SO:0001630	splice_region_variant	4691	exon4				CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"""RNA binding motif (RRM) containing"""	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.614-1C>A	2.37:g.232325576G>T			232033820	NM_005381	Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	ENST00000322723.4	37	CCDS33397.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.770320	0.31320	.	.	ENSG00000115053	ENST00000322723	T	0.15487	2.42	5.64	3.81	0.43845	.	0.437004	0.27696	N	0.018227	T	0.09949	0.0244	L	0.32530	0.975	0.39856	D	0.973303	B	0.02656	0.0	B	0.04013	0.001	T	0.16867	-1.0388	10	0.10377	T	0.69	.	4.7209	0.12917	0.0821:0.1617:0.6091:0.1472	.	205	P19338	NUCL_HUMAN	E	205	ENSP00000318195:D205E	ENSP00000318195:D205E	D	-	3	2	NCL	232033820	0.997000	0.39634	1.000000	0.80357	0.959000	0.62525	0.239000	0.18023	0.726000	0.32339	0.650000	0.86243	GAC		0.408	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381	Missense_Mutation
DIS3L2	129563	broad.mit.edu	37	2	233198598	233198598	+	Missense_Mutation	SNP	C	C	T	rs372762400		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:233198598C>T	ENST00000409307.1	+	16	2059	c.2059C>T	c.(2059-2061)Cgg>Tgg	p.R687W	DIS3L2_ENST00000325385.7_Missense_Mutation_p.R687W|DIS3L2_ENST00000273009.6_Intron					DIS3 like 3'-5' exoribonuclease 2									p.R687W(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		AGCGCAGTTCCGGCACTACGC	0.662																																					p.R687W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2059T	2						.	C	TRP/ARG	0,4374		0,0,2187	64.0	72.0	69.0		2059	3.4	1.0	2		69	1,8541		0,1,4270	no	missense	DIS3L2	NM_152383.4	101	0,1,6457	TT,TC,CC		0.0117,0.0,0.0077	benign	687/886	233198598	1,12915	2187	4271	6458	232906842	SO:0001583	missense	129563	exon17			BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.2059C>T	2.37:g.233198598C>T	ENSP00000386799:p.Arg687Trp		232906842	NM_152383		Missense_Mutation	SNP	ENST00000409307.1	37	CCDS42834.1	.	.	.	.	.	.	.	.	.	.	c	12.58	1.980339	0.34942	0.0	1.17E-4	ENSG00000144535	ENST00000325385;ENST00000409307;ENST00000424049	T;T;T	0.44083	0.93;0.93;0.93	4.3	3.42	0.39159	Ribonuclease II/R (2);	0.167782	0.35805	N	0.002976	T	0.36580	0.0972	L	0.42008	1.315	0.80722	D	1	B	0.22276	0.067	B	0.25291	0.059	T	0.15235	-1.0444	10	0.34782	T	0.22	-13.4315	14.2588	0.66070	0.0:0.8495:0.1505:0.0	.	687	Q8IYB7	DI3L2_HUMAN	W	687;687;322	ENSP00000315569:R687W;ENSP00000386799:R687W;ENSP00000415419:R322W	ENSP00000315569:R687W	R	+	1	2	DIS3L2	232906842	1.000000	0.71417	0.999000	0.59377	0.360000	0.29518	2.538000	0.45710	0.961000	0.38030	-0.132000	0.14878	CGG		0.662	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1	NM_152383	
NGEF	25791	broad.mit.edu	37	2	233750056	233750056	+	Silent	SNP	G	G	A	rs557562280		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:233750056G>A	ENST00000264051.3	-	10	1649	c.1371C>T	c.(1369-1371)ggC>ggT	p.G457G	NGEF_ENST00000539537.1_Silent_p.G180G|NGEF_ENST00000373552.4_Silent_p.G365G	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	457	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G457G(1)		central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		TTTTCCTGACGCCCTCGTTGC	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		19894	0.001		0.0	False		,,,				2504	0.0				p.G365G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1095T	2						.						251.0	209.0	223.0					2																	233750056		2203	4300	6503	233458300	SO:0001819	synonymous_variant	25791	exon8			AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"""Rho guanine nucleotide exchange factors"""	7807	protein-coding gene	gene with protein product	"""ephexin"""	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.1371C>T	2.37:g.233750056G>A			233458300	NM_001114090	B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Silent	SNP	ENST00000264051.3	37	CCDS2500.1	.	.	.	.	.	.	.	.	.	.	G	3.626	-0.076536	0.07184	.	.	ENSG00000066248	ENST00000424488	.	.	.	4.59	-5.25	0.02781	.	.	.	.	.	T	0.48390	0.1497	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48399	-0.9039	4	.	.	.	-29.8896	7.4009	0.26962	0.4894:0.3013:0.2093:0.0	.	.	.	.	V	49	.	.	A	-	2	0	NGEF	233458300	0.001000	0.12720	0.955000	0.39395	0.386000	0.30323	-1.719000	0.01873	-0.976000	0.03542	-0.463000	0.05309	GCG		0.582	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799	
AGAP1	116987	broad.mit.edu	37	2	236708118	236708118	+	Silent	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:236708118G>A	ENST00000304032.8	+	8	1489	c.909G>A	c.(907-909)acG>acA	p.T303T	AGAP1_ENST00000336665.5_Silent_p.T303T|AGAP1_ENST00000409457.1_Silent_p.T303T|AGAP1_ENST00000428334.2_Silent_p.T142T|AGAP1_ENST00000409538.1_Silent_p.T568T	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	303					protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)	p.T303T(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CTGCCAACACGCCCACGCCCG	0.567																																					p.T303T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G909A	2						.						105.0	89.0	94.0					2																	236708118		2203	4300	6503	236372857	SO:0001819	synonymous_variant	116987	exon8			AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.909G>A	2.37:g.236708118G>A			236372857	NM_001037131	B2RTX7|Q541S5|Q6P9D7|Q9NV93	Silent	SNP	ENST00000304032.8	37	CCDS33408.1																																																																																				0.567	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914	
COL6A3	1293	broad.mit.edu	37	2	238275390	238275390	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:238275390C>A	ENST00000295550.4	-	11	5892	c.5440G>T	c.(5440-5442)Gaa>Taa	p.E1814*	COL6A3_ENST00000347401.3_Nonsense_Mutation_p.E1613*|COL6A3_ENST00000472056.1_Nonsense_Mutation_p.E1207*|COL6A3_ENST00000409809.1_Nonsense_Mutation_p.E1608*|COL6A3_ENST00000346358.4_Nonsense_Mutation_p.E1614*|COL6A3_ENST00000353578.4_Nonsense_Mutation_p.E1608*	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1814	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.E1814*(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGCAAAGTTTCCAAAACTTGC	0.507																																					p.E1207X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3619T	2						.						116.0	107.0	110.0					2																	238275390		2203	4300	6503	237940129	SO:0001587	stop_gained	1293	exon8			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5440G>T	2.37:g.238275390C>A	ENSP00000295550:p.Glu1814*		237940129	NM_057166	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Nonsense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	42	9.704035	0.99242	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	.	.	.	5.19	5.19	0.71726	.	0.129161	0.35525	N	0.003142	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	12.1344	0.53961	0.0:0.9218:0.0:0.0782	.	.	.	.	X	1814;1613;1608;1207;1608;1614	.	ENSP00000295550:E1814X	E	-	1	0	COL6A3	237940129	1.000000	0.71417	0.857000	0.33713	0.288000	0.27193	2.978000	0.49305	2.416000	0.81992	0.655000	0.94253	GAA		0.507	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
MFSD2B	388931	broad.mit.edu	37	2	24247038	24247038	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:24247038G>A	ENST00000406420.3	+	13	1403	c.1387G>A	c.(1387-1389)Gcc>Acc	p.A463T	MFSD2B_ENST00000338315.4_Missense_Mutation_p.A463T	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	463					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.A463T(1)		cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						CCTCATTGGCGCCGTGCCCAC	0.607																																					p.A463T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1387A	2						.						62.0	72.0	69.0					2																	24247038		2109	4231	6340	24100542	SO:0001583	missense	388931	exon13				CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639			37207	protein-coding gene	gene with protein product						18694395	Standard	NM_001080473		Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.1387G>A	2.37:g.24247038G>A	ENSP00000385527:p.Ala463Thr		24100542	NM_001080473	B5MC32	Missense_Mutation	SNP	ENST00000406420.3	37	CCDS46228.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032328	0.54790	.	.	ENSG00000205639	ENST00000406420;ENST00000338315	D;D	0.88818	-2.43;-2.43	4.93	4.93	0.64822	Major facilitator superfamily domain, general substrate transporter (1);	0.068242	0.56097	U	0.000025	D	0.91570	0.7337	M	0.71581	2.175	0.32785	N	0.501925	D	0.56746	0.977	P	0.52514	0.701	D	0.93483	0.6829	10	0.45353	T	0.12	-12.6105	17.1616	0.86805	0.0:0.0:1.0:0.0	.	463	A6NFX1	MFS2B_HUMAN	T	463	ENSP00000385527:A463T;ENSP00000342501:A463T	ENSP00000342501:A463T	A	+	1	0	MFSD2B	24100542	0.992000	0.36948	0.487000	0.27428	0.752000	0.42762	3.595000	0.54016	2.497000	0.84241	0.456000	0.33151	GCC		0.607	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000324307.1	NM_001080473	
CAD	790	broad.mit.edu	37	2	27460681	27460681	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:27460681C>T	ENST00000403525.1	+	28	4614	c.4470C>T	c.(4468-4470)gcC>gcT	p.A1490A	CAD_ENST00000264705.4_Silent_p.A1553A			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.A1553A(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTCTGCAGCCGGGCTGAAGC	0.627																																					p.A1553A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4659T	2						.						52.0	56.0	55.0					2																	27460681		2203	4300	6503	27314185	SO:0001819	synonymous_variant	790	exon29			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.4470C>T	2.37:g.27460681C>T			27314185	NM_004341	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	ENST00000403525.1	37		.	.	.	.	.	.	.	.	.	.	C	9.689	1.151473	0.21371	.	.	ENSG00000084774	ENST00000458503	.	.	.	4.65	-9.31	0.00646	.	.	.	.	.	T	0.43612	0.1255	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50947	-0.8767	4	.	.	.	-0.0053	6.3761	0.21509	0.1661:0.5468:0.0698:0.2174	.	.	.	.	L	205	.	.	P	+	2	0	CAD	27314185	0.000000	0.05858	0.790000	0.31976	0.938000	0.57974	-3.623000	0.00411	-2.303000	0.00656	-1.267000	0.01435	CCG		0.627	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1		
IFT172	26160	broad.mit.edu	37	2	27672244	27672244	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:27672244C>T	ENST00000260570.3	-	39	4331	c.4228G>A	c.(4228-4230)Gtg>Atg	p.V1410M		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1410					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.V1410M(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)					TCCACACCCACCAGCTGGGTC	0.512																																					p.V1410M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4228A	2						.						112.0	104.0	107.0					2																	27672244		2203	4300	6503	27525748	SO:0001583	missense	26160	exon39			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.4228G>A	2.37:g.27672244C>T	ENSP00000260570:p.Val1410Met		27525748	NM_015662	A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.285599	0.80803	.	.	ENSG00000138002	ENST00000260570	T	0.47177	0.85	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.59689	0.2212	L	0.56769	1.78	0.80722	D	1	P	0.51537	0.946	P	0.54401	0.751	T	0.59726	-0.7400	10	0.48119	T	0.1	-15.6917	17.6583	0.88184	0.0:1.0:0.0:0.0	.	1410	Q9UG01	IF172_HUMAN	M	1410	ENSP00000260570:V1410M	ENSP00000260570:V1410M	V	-	1	0	IFT172	27525748	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.793000	0.75130	2.508000	0.84585	0.555000	0.69702	GTG		0.512	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662	
SLC4A1AP	22950	broad.mit.edu	37	2	27888013	27888013	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:27888013A>G	ENST00000326019.6	+	2	1154	c.872A>G	c.(871-873)cAg>cGg	p.Q291R	SUPT7L_ENST00000337768.5_5'Flank|SUPT7L_ENST00000406540.1_5'Flank|SUPT7L_ENST00000405491.1_5'Flank|SUPT7L_ENST00000464789.2_5'Flank|SUPT7L_ENST00000404798.2_5'Flank	NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	291						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Q291R(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					ACAGTAACACAGTTGAAGGAA	0.423																																					p.Q291R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A872G	2						.						136.0	145.0	142.0					2																	27888013		2203	4300	6503	27741517	SO:0001583	missense	22950	exon2				CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"""lung cancer oncogene 3"""	602655	"""solute carrier family 4 (anion exchanger), member 1, adapter protein"""			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.872A>G	2.37:g.27888013A>G	ENSP00000323837:p.Gln291Arg		27741517	NM_018158	A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Missense_Mutation	SNP	ENST00000326019.6	37	CCDS33166.1	.	.	.	.	.	.	.	.	.	.	A	18.29	3.592470	0.66219	.	.	ENSG00000163798	ENST00000326019	T	0.32023	1.47	5.35	5.35	0.76521	.	0.106600	0.64402	D	0.000004	T	0.36276	0.0961	L	0.59436	1.845	0.49915	D	0.999837	P	0.37061	0.58	B	0.40329	0.326	T	0.14811	-1.0459	10	0.44086	T	0.13	-17.1092	15.3479	0.74355	1.0:0.0:0.0:0.0	.	291	Q9BWU0	NADAP_HUMAN	R	291	ENSP00000323837:Q291R	ENSP00000323837:Q291R	Q	+	2	0	SLC4A1AP	27741517	1.000000	0.71417	0.992000	0.48379	0.862000	0.49288	8.682000	0.91232	2.013000	0.59113	0.379000	0.24179	CAG		0.423	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324550.1	NM_018158	
BRE	9577	broad.mit.edu	37	2	28561371	28561371	+	Silent	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:28561371A>G	ENST00000342045.2	+	13	1284	c.1143A>G	c.(1141-1143)ggA>ggG	p.G381G	BRE_ENST00000379632.2_3'UTR|BRE_ENST00000344773.2_3'UTR|BRE_ENST00000361704.2_3'UTR|BRE_ENST00000379624.1_Silent_p.G381G	NM_199194.2	NP_954664.1			brain and reproductive organ-expressed (TNFRSF1A modulator)									p.G381G(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					TTGCCAATGGAAAGCTCTAGG	0.507																																					p.G381G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1143G	2						.						134.0	139.0	137.0					2																	28561371		2203	4300	6503	28414875	SO:0001819	synonymous_variant	9577	exon13			AF015767	CCDS1763.1, CCDS1764.1, CCDS1765.1	2p23	2008-02-05			ENSG00000158019	ENSG00000158019			1106	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 4"""	610497				9737713, 7826398	Standard	NM_004899		Approved	BRCC45, BRCC4	uc002rls.3	Q9NXR7	OTTHUMG00000097831	ENST00000342045.2:c.1143A>G	2.37:g.28561371A>G			28414875	NM_199194		Missense_Mutation	SNP	ENST00000342045.2	37	CCDS1763.1																																																																																				0.507	BRE-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215114.1		
C2orf71	388939	broad.mit.edu	37	2	29295481	29295481	+	Silent	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:29295481G>A	ENST00000331664.5	-	1	1646	c.1647C>T	c.(1645-1647)agC>agT	p.S549S		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	549					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)		p.S549S(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TGATCCTTTCGCTGATTGACT	0.582																																					p.S549S												.	.	2	Substitution - coding silent(2)	large_intestine(1)|prostate(1)	c.C1647T	2						.						48.0	51.0	50.0					2																	29295481		2000	4162	6162	29148985	SO:0001819	synonymous_variant	388939	exon1				CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.1647C>T	2.37:g.29295481G>A			29148985	NM_001029883		Silent	SNP	ENST00000331664.5	37	CCDS42669.1																																																																																				0.582	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883	
ALK	238	broad.mit.edu	37	2	29541170	29541170	+	Splice_Site	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:29541170C>A	ENST00000389048.3	-	8	2553	c.1647G>T	c.(1645-1647)gaG>gaT	p.E549D	ALK_ENST00000431873.1_Intron|ALK_ENST00000498037.1_5'UTR	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	549	MAM 2. {ECO:0000255|PROSITE- ProRule:PRU00128}.				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.E549D(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)	GGAGACTTGCCTCACATGGAG	0.507			"""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.E549D		yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"""L, E, M"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1647T	2						.						131.0	112.0	118.0					2																	29541170		2203	4300	6503	29394674	SO:0001630	splice_region_variant	238	exon8	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.1647+1G>T	2.37:g.29541170C>A			29394674	NM_004304	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127390	0.77549	.	.	ENSG00000171094	ENST00000389048	T	0.77489	-1.1	5.93	5.93	0.95920	Concanavalin A-like lectin/glucanase (1);MAM domain (2);	0.133276	0.33477	N	0.004863	T	0.70482	0.3229	L	0.29908	0.895	0.80722	D	1	P	0.48407	0.91	B	0.42738	0.396	T	0.69254	-0.5193	9	.	.	.	.	17.5099	0.87757	0.0:1.0:0.0:0.0	.	549	Q9UM73	ALK_HUMAN	D	549	ENSP00000373700:E549D	.	E	-	3	2	ALK	29394674	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	4.696000	0.61774	2.826000	0.97356	0.655000	0.94253	GAG		0.507	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304	Missense_Mutation
XDH	7498	broad.mit.edu	37	2	31570429	31570429	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:31570429C>T	ENST00000379416.3	-	29	3283	c.3235G>A	c.(3235-3237)Gct>Act	p.A1079T		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1079					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)	p.A1079T(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	ACAGAGGCAGCCGTGGGAGAG	0.572																																					p.A1079T	Colon(66;682 1445 30109 40147)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3235A	2						.						93.0	95.0	94.0					2																	31570429		2203	4300	6503	31423933	SO:0001583	missense	7498	exon29			D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.3235G>A	2.37:g.31570429C>T	ENSP00000368727:p.Ala1079Thr		31423933	NM_000379	Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.161794	0.78226	.	.	ENSG00000158125	ENST00000379416	T	0.39592	1.07	5.85	5.85	0.93711	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.046101	0.85682	D	0.000000	T	0.72187	0.3429	M	0.91920	3.255	0.80722	D	1	D	0.62365	0.991	D	0.63957	0.92	T	0.78064	-0.2350	10	0.87932	D	0	.	19.7753	0.96389	0.0:1.0:0.0:0.0	.	1079	P47989	XDH_HUMAN	T	1079	ENSP00000368727:A1079T	ENSP00000368727:A1079T	A	-	1	0	XDH	31423933	1.000000	0.71417	0.321000	0.25320	0.338000	0.28826	5.981000	0.70524	2.753000	0.94483	0.655000	0.94253	GCT		0.572	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379	
SLC30A6	55676	broad.mit.edu	37	2	32445290	32445290	+	Silent	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:32445290A>G	ENST00000282587.5	+	14	931	c.894A>G	c.(892-894)tcA>tcG	p.S298S	SLC30A6_ENST00000379343.2_Silent_p.S338S|SLC30A6_ENST00000406369.1_Silent_p.S224S|SLC30A6_ENST00000538303.1_Silent_p.S269S|SLC30A6_ENST00000435660.1_Silent_p.S275S|SLC30A6_ENST00000357055.3_Silent_p.S101S	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	298					cellular protein metabolic process (GO:0044267)|Golgi to endosome transport (GO:0006895)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	zinc ion transmembrane transporter activity (GO:0005385)	p.S298S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AGGCTGGATCAGTGCATGTAA	0.338																																					p.S338S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1014G	2						.						80.0	71.0	74.0					2																	32445290		2203	4300	6503	32298794	SO:0001819	synonymous_variant	55676	exon15			AK055663	CCDS1780.1, CCDS54341.1, CCDS54342.1, CCDS54343.1	2p22.3	2013-05-22			ENSG00000152683	ENSG00000152683		"""Solute carriers"""	19305	protein-coding gene	gene with protein product		611148					Standard	NM_017964		Approved	FLJ31101, ZNT6	uc002rof.2	Q6NXT4	OTTHUMG00000128456	ENST00000282587.5:c.894A>G	2.37:g.32445290A>G			32298794	NM_001193513	A5YM45|B7Z901|Q8N5C9|Q96NC3	Silent	SNP	ENST00000282587.5	37	CCDS1780.1																																																																																				0.338	SLC30A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250254.2		
HEATR5B	54497	broad.mit.edu	37	2	37255188	37255188	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:37255188C>T	ENST00000233099.5	-	24	3826	c.3731G>A	c.(3730-3732)cGc>cAc	p.R1244H	HEATR5B_ENST00000354531.2_Missense_Mutation_p.R1244H	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1244						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.R1244H(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)				AGTGGCCCAGCGAGGGGCCAC	0.458																																					p.R1244H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3731A	2						.						87.0	93.0	91.0					2																	37255188		2203	4300	6503	37108692	SO:0001583	missense	54497	exon24			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.3731G>A	2.37:g.37255188C>T	ENSP00000233099:p.Arg1244His		37108692	NM_019024	B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.629934	0.87660	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.62232	0.04;0.04	4.73	3.84	0.44239	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70237	0.3201	L	0.60957	1.885	0.80722	D	1	D	0.69078	0.997	P	0.56127	0.792	T	0.73046	-0.4106	10	0.52906	T	0.07	-7.4302	15.1145	0.72392	0.0:0.8576:0.1424:0.0	.	1244	Q9P2D3	HTR5B_HUMAN	H	1244	ENSP00000233099:R1244H;ENSP00000346531:R1244H	ENSP00000233099:R1244H	R	-	2	0	HEATR5B	37108692	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.718000	0.84743	1.092000	0.41356	0.467000	0.42956	CGC		0.458	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024	
FBXO11	80204	broad.mit.edu	37	2	48036826	48036826	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:48036826C>T	ENST00000403359.3	-	20	2431	c.2359G>A	c.(2359-2361)Gca>Aca	p.A787T	MSH6_ENST00000234420.5_3'UTR|FBXO11_ENST00000316377.4_Missense_Mutation_p.A703T|FBXO11_ENST00000434523.2_Missense_Mutation_p.A211T|FBXO11_ENST00000405808.1_5'Flank|FBXO11_ENST00000402508.1_Missense_Mutation_p.A703T	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	787					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)|p.A703T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTTGCAGTTGCGTGATTTGTA	0.333			"""Mis, F, D"""		DLBCL																																p.A787T			Rec	yes		2	2p16.3	80204	F-box protein 11		L	.	.	3	Whole gene deletion(2)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)	c.G2359A	2						.						98.0	94.0	95.0					2																	48036826		2202	4300	6502	47890330	SO:0001583	missense	80204	exon20			AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"""Ubiquitin protein ligase E3 component n-recognins"", ""F-boxes /  ""other"""""	13590	protein-coding gene	gene with protein product	"""ubiquitin protein ligase E3 component n-recognin 6"""	607871	"""F-box only protein 11"""			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.2359G>A	2.37:g.48036826C>T	ENSP00000384823:p.Ala787Thr		47890330	NM_001190274	A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Missense_Mutation	SNP	ENST00000403359.3	37	CCDS54357.1	.	.	.	.	.	.	.	.	.	.	C	36	5.613598	0.96637	.	.	ENSG00000138081	ENST00000402508;ENST00000403359;ENST00000316377;ENST00000434523	T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.88625	0.6487	M	0.81497	2.545	0.80722	D	1	D	0.57571	0.98	P	0.56434	0.798	D	0.88953	0.3388	10	0.54805	T	0.06	-11.272	19.7088	0.96084	0.0:1.0:0.0:0.0	.	211	B3KUR1	.	T	703;787;703;211	ENSP00000385398:A703T;ENSP00000384823:A787T;ENSP00000323822:A703T;ENSP00000397359:A211T	ENSP00000323822:A703T	A	-	1	0	FBXO11	47890330	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.747000	0.85070	2.722000	0.93159	0.561000	0.74099	GCA		0.333	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3	NM_012167, NM_018693, NM_025133	
FBXO11	80204	broad.mit.edu	37	2	48059591	48059591	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:48059591G>A	ENST00000403359.3	-	11	1367	c.1295C>T	c.(1294-1296)gCg>gTg	p.A432V	FBXO11_ENST00000316377.4_Missense_Mutation_p.A348V|FBXO11_ENST00000434523.2_5'Flank|FBXO11_ENST00000402508.1_Missense_Mutation_p.A348V	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	432					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A348V(2)|p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCCAGCTAACGCATTATTGGA	0.333			"""Mis, F, D"""		DLBCL																																p.A432V			Rec	yes		2	2p16.3	80204	F-box protein 11		L	.	.	4	Substitution - Missense(2)|Whole gene deletion(2)	large_intestine(2)|haematopoietic_and_lymphoid_tissue(2)	c.C1295T	2						.						74.0	75.0	75.0					2																	48059591		2203	4300	6503	47913095	SO:0001583	missense	80204	exon11			AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"""Ubiquitin protein ligase E3 component n-recognins"", ""F-boxes /  ""other"""""	13590	protein-coding gene	gene with protein product	"""ubiquitin protein ligase E3 component n-recognin 6"""	607871	"""F-box only protein 11"""			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.1295C>T	2.37:g.48059591G>A	ENSP00000384823:p.Ala432Val		47913095	NM_001190274	A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Missense_Mutation	SNP	ENST00000403359.3	37	CCDS54357.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.776807	0.90195	.	.	ENSG00000138081	ENST00000402508;ENST00000403359;ENST00000316377	T;T;T	0.80566	-1.39;0.95;-1.39	5.95	5.95	0.96441	Pectin lyase fold/virulence factor (1);Carbohydrate-binding/sugar hydrolysis domain (1);F-box domain, Skp2-like (1);Pectin lyase fold (1);	0.000000	0.85682	D	0.000000	D	0.88130	0.6354	L	0.58354	1.805	0.80722	D	1	D	0.63880	0.993	D	0.67725	0.953	D	0.86003	0.1496	10	0.41790	T	0.15	-5.6348	20.3747	0.98911	0.0:0.0:1.0:0.0	.	432	Q86XK2	FBX11_HUMAN	V	348;432;348	ENSP00000385398:A348V;ENSP00000384823:A432V;ENSP00000323822:A348V	ENSP00000323822:A348V	A	-	2	0	FBXO11	47913095	1.000000	0.71417	0.999000	0.59377	0.940000	0.58332	9.869000	0.99810	2.817000	0.96982	0.563000	0.77884	GCG		0.333	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3	NM_012167, NM_018693, NM_025133	
NRXN1	9378	broad.mit.edu	37	2	50723097	50723097	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:50723097C>G	ENST00000406316.2	-	15	4492	c.3016G>C	c.(3016-3018)Gac>Cac	p.D1006H	NRXN1_ENST00000401710.1_Missense_Mutation_p.D15H|NRXN1_ENST00000401669.2_Missense_Mutation_p.D1006H|NRXN1_ENST00000402717.3_Missense_Mutation_p.D998H|NRXN1_ENST00000405472.3_Missense_Mutation_p.D998H|NRXN1_ENST00000406859.3_Missense_Mutation_p.D1006H|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000404971.1_Missense_Mutation_p.D1046H	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1006	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.D1047H(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ATTTTTGTGTCAATCTTTACA	0.463																																					p.D1046H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3136C	2						.						209.0	197.0	201.0					2																	50723097		2090	4224	6314	50576601	SO:0001583	missense	9378	exon16			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3016G>C	2.37:g.50723097C>G	ENSP00000384311:p.Asp1006His		50576601	NM_001135659	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.938508	0.92526	.	.	ENSG00000179915	ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	D;D;D;D;D;D;D	0.89196	-2.48;-2.43;-2.43;-2.43;-2.43;-2.43;-2.43	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.96741	0.8936	H	0.97131	3.945	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96987	0.9719	10	0.54805	T	0.06	.	19.9823	0.97331	0.0:1.0:0.0:0.0	.	1046;1006;998	Q9ULB1-3;F8WB18;A7E294	.;.;.	H	15;1046;1006;998;1006;1047;998;1006	ENSP00000385580:D15H;ENSP00000385142:D1046H;ENSP00000384311:D1006H;ENSP00000434015:D998H;ENSP00000385017:D1006H;ENSP00000385434:D998H;ENSP00000385681:D1006H	ENSP00000385017:D1006H	D	-	1	0	NRXN1	50576601	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.773000	0.85462	2.801000	0.96364	0.655000	0.94253	GAC		0.463	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2		
ERLEC1	27248	broad.mit.edu	37	2	54026187	54026187	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:54026187G>A	ENST00000185150.4	+	6	625	c.494G>A	c.(493-495)cGa>cAa	p.R165Q	ERLEC1_ENST00000405123.3_Missense_Mutation_p.R165Q|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron|ERLEC1_ENST00000378239.5_Missense_Mutation_p.R165Q|ASB3_ENST00000406625.2_Intron	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	165	PRKCSH 1.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	glycoprotein binding (GO:0001948)	p.R165Q(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						TCCACAGAACGAGAAGCAGAA	0.333																																					p.R165Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G494A	2						.						101.0	93.0	96.0					2																	54026187		2202	4299	6501	53879691	SO:0001583	missense	27248	exon6			AF131849	CCDS1848.1, CCDS46283.1, CCDS46284.1	2p16	2010-03-19	2009-08-26	2009-08-26	ENSG00000068912	ENSG00000068912			25222	protein-coding gene	gene with protein product	"""erlectin 1"""	611229	"""chromosome 2 open reading frame 30"""	C2orf30		9110174, 8619474, 16531414, 18264092	Standard	NM_015701		Approved	CL25084, XTP3TPB, XTP3-B, ERLECTIN	uc002rxl.3	Q96DZ1	OTTHUMG00000129281	ENST00000185150.4:c.494G>A	2.37:g.54026187G>A	ENSP00000185150:p.Arg165Gln		53879691	NM_015701	B2RDB4|B5MC72|O95901|Q6UWN7|Q9NUY7|Q9UQL4	Missense_Mutation	SNP	ENST00000185150.4	37	CCDS1848.1	.	.	.	.	.	.	.	.	.	.	G	2.220	-0.378641	0.05000	.	.	ENSG00000068912	ENST00000405123;ENST00000185150;ENST00000378239	T;T	0.42513	0.99;0.97	3.84	-1.53	0.08611	Glucosidase II beta subunit-like (1);	2.488280	0.01642	N	0.024102	T	0.24314	0.0589	.	.	.	0.25087	N	0.990885	B;B;B	0.11235	0.0;0.004;0.002	B;B;B	0.08055	0.001;0.003;0.002	T	0.15065	-1.0450	9	0.12766	T	0.61	5.3102	8.1801	0.31305	0.797:0.0:0.203:0.0	.	165;165;165	Q96DZ1-2;B5MC72;Q96DZ1	.;.;ERLEC_HUMAN	Q	165	ENSP00000385629:R165Q;ENSP00000185150:R165Q	ENSP00000185150:R165Q	R	+	2	0	ERLEC1	53879691	0.997000	0.39634	0.992000	0.48379	0.478000	0.33099	0.299000	0.19138	-0.423000	0.07394	-0.897000	0.02905	CGA		0.333	ERLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251404.1	NM_015701	
KIAA1841	84542	broad.mit.edu	37	2	61298804	61298804	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:61298804T>C	ENST00000402291.1	+	4	455	c.214T>C	c.(214-216)Tcc>Ccc	p.S72P	KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000356719.2_Missense_Mutation_p.S72P|KIAA1841_ENST00000453873.1_Missense_Mutation_p.S72P|KIAA1841_ENST00000295031.5_Missense_Mutation_p.S72P	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	72								p.S72P(1)		breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			CCAGTATAATTCCCTAATGGC	0.403																																					p.S72P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T214C	2						.						77.0	80.0	79.0					2																	61298804		2203	4300	6503	61152308	SO:0001583	missense	84542	exon4			BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.214T>C	2.37:g.61298804T>C	ENSP00000385579:p.Ser72Pro		61152308	NM_032506	Q49AF0|Q6ZND0|Q96JI6	Missense_Mutation	SNP	ENST00000402291.1	37	CCDS46296.1	.	.	.	.	.	.	.	.	.	.	T	2.976	-0.211435	0.06140	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	.	.	.	5.71	3.89	0.44902	.	0.243109	0.42420	N	0.000710	T	0.11196	0.0273	N	0.01168	-0.975	0.23809	N	0.996787	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.32402	-0.9908	9	0.02654	T	1	-0.3455	10.8731	0.46896	0.0:0.7977:0.1309:0.0714	.	72;72;72	Q6NSI8-2;Q6NSI8;Q6NSI8-4	.;K1841_HUMAN;.	P	72	.	ENSP00000295031:S72P	S	+	1	0	KIAA1841	61152308	0.842000	0.29525	0.099000	0.21106	0.963000	0.63663	0.514000	0.22786	0.743000	0.32719	-1.231000	0.01572	TCC		0.403	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	NM_032506	
USP34	9736	broad.mit.edu	37	2	61622009	61622009	+	Silent	SNP	C	C	T	rs550387846		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:61622009C>T	ENST00000398571.2	-	5	808	c.732G>A	c.(730-732)gcG>gcA	p.A244A		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	244					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.A244A(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CTGTAATAAACGCATGTGCTA	0.328													C|||	1	0.000199681	0.0	0.0	5008	,	,		15588	0.0		0.0	False		,,,				2504	0.001				p.A244A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G732A	2						.						86.0	75.0	78.0					2																	61622009		1846	4098	5944	61475513	SO:0001819	synonymous_variant	9736	exon5			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.732G>A	2.37:g.61622009C>T			61475513	NM_014709	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	ENST00000398571.2	37	CCDS42686.1																																																																																				0.328	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4		
EHBP1	23301	broad.mit.edu	37	2	63206387	63206387	+	Missense_Mutation	SNP	G	G	A	rs201434475		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:63206387G>A	ENST00000263991.5	+	16	3112	c.2630G>A	c.(2629-2631)cGa>cAa	p.R877Q	EHBP1_ENST00000405015.3_Missense_Mutation_p.R842Q|EHBP1_ENST00000354487.3_Missense_Mutation_p.R842Q|EHBP1_ENST00000496857.1_3'UTR|EHBP1_ENST00000405289.1_Missense_Mutation_p.R842Q|EHBP1_ENST00000431489.1_Missense_Mutation_p.R842Q	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	877						cytoplasm (GO:0005737)|membrane (GO:0016020)		p.R877Q(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			GCAGAAGCTCGATCTGGAGTG	0.448													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17198	0.0		0.0	False		,,,				2504	0.0				p.R842Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2525A	2						.						90.0	93.0	92.0					2																	63206387		2203	4300	6503	63059891	SO:0001583	missense	23301	exon14			AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.2630G>A	2.37:g.63206387G>A	ENSP00000263991:p.Arg877Gln		63059891	NM_001142614	O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	ENST00000263991.5	37	CCDS1872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.166243|5.166243	0.94768|0.94768	.|.	.|.	ENSG00000115504|ENSG00000115504	ENST00000454124|ENST00000405015;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289	.|T;T;D;D;D	.|0.81996	.|-1.44;-1.44;-1.56;-1.54;-1.54	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	.|0.000000	.|0.64402	.|D	.|0.000003	D|D	0.90154|0.90154	0.6923|0.6923	M|M	0.61703|0.61703	1.905|1.905	0.58432|0.58432	D|D	0.999995|0.999995	.|D;D;D	.|0.89917	.|1.0;0.999;1.0	.|D;D;D	.|0.83275	.|0.996;0.99;0.99	D|D	0.88136|0.88136	0.2841|0.2841	5|10	.|0.36615	.|T	.|0.2	.|.	19.8101|19.8101	0.96543|0.96543	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|842;842;877	.|Q8NDI1-2;Q8NDI1-3;Q8NDI1	.|.;.;EHBP1_HUMAN	N|Q	99|842;842;877;842;842	.|ENSP00000384143:R842Q;ENSP00000403783:R842Q;ENSP00000263991:R877Q;ENSP00000346482:R842Q;ENSP00000385524:R842Q	.|ENSP00000263991:R877Q	D|R	+|+	1|2	0|0	EHBP1|EHBP1	63059891|63059891	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.490000|8.490000	0.90464|0.90464	2.696000|2.696000	0.92011|0.92011	0.655000|0.655000	0.94253|0.94253	GAT|CGA		0.448	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252	
MDH1	4190	broad.mit.edu	37	2	63826412	63826412	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:63826412C>T	ENST00000233114.8	+	5	919	c.484C>T	c.(484-486)Cga>Tga	p.R162*	MDH1_ENST00000409476.1_Nonsense_Mutation_p.R38*|MDH1_ENST00000394423.1_Nonsense_Mutation_p.R162*|MDH1_ENST00000544381.1_Nonsense_Mutation_p.R73*|MDH1_ENST00000409908.1_Intron|MDH1_ENST00000539945.1_Nonsense_Mutation_p.R180*	NM_005917.3	NP_005908.1	P40925	MDHC_HUMAN	malate dehydrogenase 1, NAD (soluble)	162					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|malate metabolic process (GO:0006108)|NADH metabolic process (GO:0006734)|oxaloacetate metabolic process (GO:0006107)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	diiodophenylpyruvate reductase activity (GO:0047860)|L-malate dehydrogenase activity (GO:0030060)|malic enzyme activity (GO:0004470)|NAD binding (GO:0051287)	p.R162*(1)		endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(4)	13						GGATCACAACCGAGCTAAAGC	0.383																																					p.R162X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C484T	2						.						73.0	65.0	68.0					2																	63826412		2203	4300	6503	63679916	SO:0001587	stop_gained	4190	exon5				CCDS1874.1, CCDS56121.1, CCDS56122.1	2p23	2012-10-02			ENSG00000014641	ENSG00000014641	1.1.1.37		6970	protein-coding gene	gene with protein product		154200					Standard	NM_005917		Approved		uc010ypv.2	P40925	OTTHUMG00000129512	ENST00000233114.8:c.484C>T	2.37:g.63826412C>T	ENSP00000233114:p.Arg162*		63679916	NM_005917	B2R5V5|B4DUN2|B7Z3I7|F5H098|Q6I9V0	Nonsense_Mutation	SNP	ENST00000233114.8	37	CCDS1874.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.599437	0.66332	.	.	ENSG00000014641	ENST00000233114;ENST00000409476;ENST00000436321;ENST00000432309;ENST00000539945;ENST00000544381;ENST00000394423	.	.	.	5.2	2.05	0.26809	.	0.050568	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.1278	12.2473	0.54578	0.6157:0.3843:0.0:0.0	.	.	.	.	X	162;38;117;180;180;73;162	.	ENSP00000233114:R162X	R	+	1	2	MDH1	63679916	0.995000	0.38212	1.000000	0.80357	0.994000	0.84299	0.496000	0.22499	0.610000	0.30035	0.585000	0.79938	CGA		0.383	MDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251687.1		
BMP10	27302	broad.mit.edu	37	2	69093004	69093004	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:69093004G>T	ENST00000295379.1	-	2	1192	c.1034C>A	c.(1033-1035)cCt>cAt	p.P345H		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	345					activin receptor signaling pathway (GO:0032924)|adult heart development (GO:0007512)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heart trabecula formation (GO:0060347)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction (GO:0055117)|sarcomere organization (GO:0045214)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Z disc (GO:0030018)	hormone activity (GO:0005179)|receptor serine/threonine kinase binding (GO:0033612)	p.P345H(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						TTCGTATCCAGGCGGAGCGAT	0.537																																					p.P345H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1034A	2						.						110.0	105.0	107.0					2																	69093004		2203	4300	6503	68946508	SO:0001583	missense	27302	exon2			AF101441	CCDS1890.1	2p13.2	2014-09-17			ENSG00000163217	ENSG00000163217		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	20869	protein-coding gene	gene with protein product		608748				10072785	Standard	NM_014482		Approved		uc002sez.1	O95393	OTTHUMG00000129573	ENST00000295379.1:c.1034C>A	2.37:g.69093004G>T	ENSP00000295379:p.Pro345His		68946508	NM_014482	Q53R17|Q6NTE0	Missense_Mutation	SNP	ENST00000295379.1	37	CCDS1890.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.847096	0.51164	.	.	ENSG00000163217	ENST00000295379	D	0.83914	-1.78	6.07	6.07	0.98685	Transforming growth factor beta, conserved site (1);Transforming growth factor-beta, C-terminal (3);	0.314647	0.39687	N	0.001299	D	0.82549	0.5061	L	0.50919	1.6	0.09310	N	0.999995	P	0.45634	0.863	P	0.45913	0.497	T	0.78807	-0.2059	10	0.66056	D	0.02	.	14.4665	0.67488	0.0:0.0:0.8532:0.1468	.	345	O95393	BMP10_HUMAN	H	345	ENSP00000295379:P345H	ENSP00000295379:P345H	P	-	2	0	BMP10	68946508	0.979000	0.34478	0.242000	0.24170	0.618000	0.37518	5.495000	0.66912	2.884000	0.98904	0.655000	0.94253	CCT		0.537	BMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251768.1	NM_014482	
ANTXR1	84168	broad.mit.edu	37	2	69351762	69351762	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:69351762C>T	ENST00000303714.4	+	12	1260	c.938C>T	c.(937-939)aCc>aTc	p.T313I	ANTXR1_ENST00000409349.3_Missense_Mutation_p.T313I|ANTXR1_ENST00000409829.3_Missense_Mutation_p.T313I	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	313					actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)	p.T313I(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GTCATCATCACCACCACACAC	0.433									Familial Infantile Hemangioma																												p.T313I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C938T	2						.						269.0	225.0	240.0					2																	69351762		2203	4300	6503	69205266	SO:0001583	missense	84168	exon12	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.938C>T	2.37:g.69351762C>T	ENSP00000301945:p.Thr313Ile		69205266	NM_053034	A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Missense_Mutation	SNP	ENST00000303714.4	37	CCDS1892.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.0|23.0	4.359746|4.359746	0.82353|0.82353	.|.	.|.	ENSG00000169604|ENSG00000169604	ENST00000482235|ENST00000303714;ENST00000409829;ENST00000409349	.|D;D;D	.|0.87491	.|-2.26;-2.26;-2.26	5.3|5.3	5.3|5.3	0.74995|0.74995	.|Anthrax toxin receptor, extracellular (1);	.|0.205989	.|0.49305	.|D	.|0.000158	D|D	0.93080|0.93080	0.7797|0.7797	M|M	0.80616|0.80616	2.505|2.505	0.50632|0.50632	D|D	0.999881|0.999881	.|D;P;P	.|0.64830	.|0.994;0.748;0.937	.|D;P;P	.|0.65233	.|0.933;0.511;0.715	D|D	0.93640|0.93640	0.6964|0.6964	5|10	.|0.87932	.|D	.|0	-28.3261|-28.3261	16.5016|16.5016	0.84259|0.84259	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|313;313;313	.|Q9H6X2;Q9H6X2-2;Q9H6X2-4	.|ANTR1_HUMAN;.;.	S|I	145|313	.|ENSP00000301945:T313I;ENSP00000387058:T313I;ENSP00000386494:T313I	.|ENSP00000301945:T313I	P|T	+|+	1|2	0|0	ANTXR1|ANTXR1	69205266|69205266	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.987000|5.987000	0.70571|0.70571	2.769000|2.769000	0.95229|0.95229	0.655000|0.655000	0.94253|0.94253	CCA|ACC		0.433	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208	
ALMS1	7840	broad.mit.edu	37	2	73828563	73828563	+	Splice_Site	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:73828563G>T	ENST00000264448.6	+	19	12222	c.12111G>T	c.(12109-12111)caG>caT	p.Q4037H	ALMS1_ENST00000409009.1_Splice_Site_p.Q3995H|ALMS1_ENST00000464408.2_3'UTR	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4037	ALMS motif.				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.Q4037H(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						CAACCCTTCAGGTGCAGTGAC	0.582																																					p.Q4037H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G12111T	2						.						24.0	27.0	26.0					2																	73828563		2200	4299	6499	73682071	SO:0001630	splice_region_variant	7840	exon19			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.12111+1G>T	2.37:g.73828563G>T			73682071	NM_015120	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027611	0.75390	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.11169	2.8;2.8	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000002	T	0.27663	0.0680	L	0.46157	1.445	0.80722	D	1	D;D	0.76494	0.99;0.999	D;D	0.85130	0.951;0.997	T	0.00330	-1.1812	10	0.87932	D	0	.	16.2168	0.82237	0.0:0.0:1.0:0.0	.	3995;4037	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	H	3995;4037	ENSP00000386627:Q3995H;ENSP00000264448:Q4037H	ENSP00000264448:Q4037H	Q	+	3	2	ALMS1	73682071	1.000000	0.71417	0.999000	0.59377	0.767000	0.43475	6.059000	0.71133	2.701000	0.92244	0.561000	0.74099	CAG		0.582	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120	Missense_Mutation
SMYD1	150572	broad.mit.edu	37	2	88405894	88405894	+	Silent	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:88405894T>C	ENST00000419482.2	+	8	1117	c.1032T>C	c.(1030-1032)gcT>gcC	p.A344A	SMYD1_ENST00000444564.2_Silent_p.A331A|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	344					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.A344A(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						CAGTGTTTGCTGACACCAACA	0.547																																					p.A344A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1032C	2						.						173.0	129.0	144.0					2																	88405894		2203	4300	6503	88187009	SO:0001819	synonymous_variant	150572	exon8			AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.1032T>C	2.37:g.88405894T>C			88187009	NM_198274	A0AV30|A6NE13	Silent	SNP	ENST00000419482.2	37	CCDS33240.1																																																																																				0.547	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915	
TEX37	200523	broad.mit.edu	37	2	88825964	88825964	+	Silent	SNP	C	C	T	rs114896470	byFrequency	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:88825964C>T	ENST00000303254.3	+	3	211	c.69C>T	c.(67-69)gtC>gtT	p.V23V		NM_152670.2	NP_689883.1	Q96LM6	TEX37_HUMAN	testis expressed 37	23						nucleus (GO:0005634)		p.V23V(1)									CCCACATGGTCGACTATCAGC	0.478													C|||	66	0.0131789	0.0484	0.0029	5008	,	,		19860	0.0		0.0	False		,,,				2504	0.0				p.V23V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C69T	2						.	C		218,4188	131.4+/-167.9	4,210,1989	128.0	108.0	115.0		69	-1.3	0.2	2	dbSNP_132	115	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	C2orf51	NM_152670.2		4,215,6284	TT,TC,CC		0.0581,4.9478,1.7146		23/181	88825964	223,12783	2203	4300	6503	88607079	SO:0001819	synonymous_variant	200523	exon3			AK058098	CCDS2003.1	2p11.2	2014-01-28	2012-09-14	2012-09-14	ENSG00000172073	ENSG00000172073			26341	protein-coding gene	gene with protein product	"""Testis-Specific Conserved gene 21kDa"""		"""chromosome 2 open reading frame 51"""	C2orf51		17091336	Standard	NM_152670		Approved	FLJ25369, TSC21	uc002stb.2	Q96LM6	OTTHUMG00000130332	ENST00000303254.3:c.69C>T	2.37:g.88825964C>T			88607079	NM_152670		Silent	SNP	ENST00000303254.3	37	CCDS2003.1																																																																																				0.478	TEX37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252682.1	NM_152670	
STARD7-AS1	285033	broad.mit.edu	37	2	96906265	96906265	+	RNA	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:96906265C>T	ENST00000446816.1	+	0	648																											CCAGTGAGAACACACATTCAG	0.572																																					p.N68N												.	.	0			c.C204T	2						.						71.0	78.0	76.0					2																	96906265		2087	4233	6320	96269992			285033	exon1																															2.37:g.96906265C>T			96269992	NM_001037228		Silent	SNP	ENST00000446816.1	37																																																																																					0.572	AC012307.3-001	KNOWN	basic|exp_conf	antisense	processed_transcript	OTTHUMT00000338796.1		
TMEM131	23505	broad.mit.edu	37	2	98430750	98430750	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:98430750G>A	ENST00000186436.5	-	14	1622	c.1394C>T	c.(1393-1395)gCg>gTg	p.A465V		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	465						integral component of membrane (GO:0016021)		p.A352V(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						AATGAGGATCGCAAAACTGAA	0.408																																					p.A465V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1394T	2						.						105.0	100.0	102.0					2																	98430750		1893	4128	6021	97797182	SO:0001583	missense	23505	exon14			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.1394C>T	2.37:g.98430750G>A	ENSP00000186436:p.Ala465Val		97797182	NM_015348		Missense_Mutation	SNP	ENST00000186436.5	37	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	G	31	5.097924	0.94197	.	.	ENSG00000075568	ENST00000186436	T	0.33216	1.42	5.31	5.31	0.75309	.	0.053675	0.64402	D	0.000001	T	0.42063	0.1186	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	P	0.61070	0.883	T	0.32798	-0.9893	10	0.59425	D	0.04	-12.5872	19.3411	0.94342	0.0:0.0:1.0:0.0	.	465	Q92545	TM131_HUMAN	V	465	ENSP00000186436:A465V	ENSP00000186436:A465V	A	-	2	0	TMEM131	97797182	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	9.047000	0.93823	2.631000	0.89168	0.655000	0.94253	GCG		0.408	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542	
AFF3	3899	broad.mit.edu	37	2	100182081	100182081	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:100182081T>C	ENST00000409236.2	-	18	3099	c.2987A>G	c.(2986-2988)gAa>gGa	p.E996G	AFF3_ENST00000356421.2_Missense_Mutation_p.E1021G|AFF3_ENST00000317233.4_Missense_Mutation_p.E996G|AFF3_ENST00000409579.1_Missense_Mutation_p.E1021G			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	996					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.E1021G(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TCCAAACTTTTCCACCTGATC	0.373																																					p.E1021G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3062G	2						.						125.0	114.0	118.0					2																	100182081		2203	4300	6503	99548513	SO:0001583	missense	3899	exon19			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2987A>G	2.37:g.100182081T>C	ENSP00000387207:p.Glu996Gly		99548513	NM_001025108	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.802520	0.90538	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000445815	T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34	5.67	5.67	0.87782	.	0.055376	0.64402	D	0.000001	T	0.81531	0.4842	M	0.78456	2.415	0.54753	D	0.999989	D;D	0.67145	0.996;0.993	D;D	0.67548	0.952;0.91	D	0.84091	0.0390	10	0.87932	D	0	.	16.2014	0.82084	0.0:0.0:0.0:1.0	.	996;1021	P51826;P51826-2	AFF3_HUMAN;.	G	996;1021;1021;996;38	ENSP00000317421:E996G;ENSP00000348793:E1021G;ENSP00000386834:E1021G;ENSP00000387207:E996G;ENSP00000416685:E38G	ENSP00000317421:E996G	E	-	2	0	AFF3	99548513	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.965000	0.87945	2.281000	0.76405	0.533000	0.62120	GAA		0.373	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285	
SCN7A	6332	broad.mit.edu	37	2	167333974	167333974	+	Splice_Site	DEL	T	T	-			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:167333974delT	ENST00000409855.1	-	2	359	c.233delA	c.(232-234)aat>at	p.N78fs		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	78					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.N78fs*4(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	AATACTCACATTTTTTTTCTT	0.299																																					p.N78fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.233delA	2						.			30,3308		2,26,1641	19.0	16.0	17.0			-1.3	1.0	2		17	66,7408		7,52,3678	no	frameshift-near-splice	SCN7A	NM_002976.3		9,78,5319	A1A1,A1R,RR		0.8831,0.8987,0.8879			167333974	96,10716	1732	3921	5653	167042220	SO:0001630	splice_region_variant	6332	exon2			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.234+1A>-	2.37:g.167333974delT			167042220	NM_002976		Frame_Shift_Del	DEL	ENST00000409855.1	37	CCDS46442.1																																																																																				0.299	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1		Frame_Shift_Del
DYNC1I2	1781	broad.mit.edu	37	2	172549339	172549339	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:172549339delA	ENST00000397119.3	+	3	328	c.161delA	c.(160-162)gaafs	p.E54fs	DYNC1I2_ENST00000409317.1_Frame_Shift_Del_p.E54fs|DYNC1I2_ENST00000508530.1_Frame_Shift_Del_p.E54fs|DYNC1I2_ENST00000534253.2_Frame_Shift_Del_p.E54fs|DYNC1I2_ENST00000409453.1_Frame_Shift_Del_p.E54fs|DYNC1I2_ENST00000358002.6_Frame_Shift_Del_p.E54fs|DYNC1I2_ENST00000409197.1_Frame_Shift_Del_p.E54fs|DYNC1I2_ENST00000263811.4_Frame_Shift_Del_p.E54fs|DYNC1I2_ENST00000340296.4_Frame_Shift_Del_p.E54fs|DYNC1I2_ENST00000409773.1_Frame_Shift_Del_p.E54fs|DYNC1I2_ENST00000410079.3_Frame_Shift_Del_p.E54fs	NM_001378.1	NP_001369.1	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	54					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.R57fs*13(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			TCAGATCTTGAAAAAAAAAGG	0.353																																					p.E54fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.161delA	2						.			31,25,3492		1,0,29,4,17,1723	43.0	42.0	42.0			5.7	1.0	2		43	56,78,7706		0,0,56,13,52,3799	no	codingComplex	DYNC1I2	NM_001378.1		1,0,85,17,69,5522	A1A1,A1A2,A1R,A2A2,A2R,RR		1.7092,1.5784,1.6684			172549339	87,103,11198	1838	4091	5929	172257585	SO:0001589	frameshift_variant	1781	exon3			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.161delA	2.37:g.172549339delA	ENSP00000380308:p.Glu54fs		172257585	NM_001378	B7ZA04|D3DPD4|D3DPD5|D3DPD6|Q32LY9|Q53S84|Q5BJF8|Q7Z4X1|Q96NG7|Q96S87|Q9BXZ5|Q9NT58	Frame_Shift_Del	DEL	ENST00000397119.3	37	CCDS46450.1																																																																																				0.353	DYNC1I2-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333683.2	NM_001378	
GMPPA	29926	broad.mit.edu	37	2	220366249	220366249	+	Frame_Shift_Del	DEL	C	C	-	rs34873891	byFrequency	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:220366249delC	ENST00000358215.3	+	4	559	c.190delC	c.(190-192)cccfs	p.P64fs	AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373908.1_Frame_Shift_Del_p.P64fs|GMPPA_ENST00000373917.3_Frame_Shift_Del_p.P64fs|GMPPA_ENST00000313597.5_Frame_Shift_Del_p.P64fs|GMPPA_ENST00000341142.3_Frame_Shift_Del_p.P64fs	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	64					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotidyltransferase activity (GO:0016779)	p.L65fs*5(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		ACCTGATGAGCCCCTCACCCA	0.547																																					p.P64fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.190delC	2						.						129.0	130.0	130.0					2																	220366249		2203	4300	6503	220074493	SO:0001589	frameshift_variant	29926	exon4			AF135422	CCDS2441.1	2q36.1	2008-02-05			ENSG00000144591	ENSG00000144591			22923	protein-coding gene	gene with protein product		615495					Standard	NM_205847		Approved		uc002vlr.3	Q96IJ6	OTTHUMG00000058922	ENST00000358215.3:c.190delC	2.37:g.220366249delC	ENSP00000350949:p.Pro64fs		220074493	NM_205847	A6NJ74|A8K3Q6|B3KMT4|Q53GI0|Q9NWC3|Q9Y5P5	Frame_Shift_Del	DEL	ENST00000358215.3	37	CCDS2441.1																																																																																				0.547	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130230.1	NM_013335	
COL6A3	1293	broad.mit.edu	37	2	238289881	238289881	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr2:238289881G>A	ENST00000295550.4	-	5	2026	c.1574C>T	c.(1573-1575)aCg>aTg	p.T525M	COL6A3_ENST00000347401.3_Missense_Mutation_p.T324M|COL6A3_ENST00000472056.1_Missense_Mutation_p.T118M|COL6A3_ENST00000409809.1_Missense_Mutation_p.T319M|COL6A3_ENST00000346358.4_Missense_Mutation_p.T525M|COL6A3_ENST00000353578.4_Missense_Mutation_p.T319M|COL6A3_ENST00000392003.2_Missense_Mutation_p.T118M|COL6A3_ENST00000392004.3_Missense_Mutation_p.T319M	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	525	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.T525M(2)|p.T319M(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGCAGAGCCCGTGTACAGGGC	0.517																																					p.T118M												.	.	3	Substitution - Missense(3)	endometrium(2)|large_intestine(1)	c.C353T	2						.						86.0	97.0	93.0					2																	238289881		2203	4300	6503	237954620	SO:0001583	missense	1293	exon3			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.1574C>T	2.37:g.238289881G>A	ENSP00000295550:p.Thr525Met		237954620	NM_057166	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.837249	0.50951	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003;ENST00000433762	D;D;D;D;D;D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15	5.6	4.63	0.57726	von Willebrand factor, type A (3);	0.233058	0.29767	N	0.011244	D	0.94525	0.8237	M	0.90922	3.16	0.49483	D	0.999792	D;D;D;D;D;D	0.89917	0.997;1.0;0.986;0.999;1.0;0.999	D;D;D;D;D;D	0.83275	0.926;0.996;0.964;0.977;0.989;0.926	D	0.95196	0.8312	10	0.72032	D	0.01	.	14.0547	0.64761	0.0777:0.0:0.9223:0.0	.	525;118;118;319;319;525	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	M	525;324;319;118;319;525;319;118;525	ENSP00000295550:T525M;ENSP00000315609:T324M;ENSP00000315873:T319M;ENSP00000418285:T118M;ENSP00000386844:T319M;ENSP00000295546:T525M;ENSP00000375861:T319M;ENSP00000375860:T118M;ENSP00000389539:T525M	ENSP00000295550:T525M	T	-	2	0	COL6A3	237954620	0.993000	0.37304	0.932000	0.37286	0.140000	0.21249	2.068000	0.41471	1.198000	0.43158	0.655000	0.94253	ACG		0.517	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
FANCD2	2177	broad.mit.edu	37	3	10134979	10134979	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:10134979G>T	ENST00000419585.1	+	39	4021	c.3860G>T	c.(3859-3861)aGt>aTt	p.S1287I	FANCD2OS_ENST00000524279.1_Intron|FANCD2OS_ENST00000436517.1_Intron|FANCD2_ENST00000383807.1_Missense_Mutation_p.S1287I|FANCD2_ENST00000287647.3_Missense_Mutation_p.S1287I|FANCD2_ENST00000383806.1_3'UTR			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1287					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)	p.S1287I(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GTATTTGATAGTCATCCTGTT	0.478			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.S1287I		yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""Fanconi anemia, complementation group D2"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3860T	3						.						197.0	180.0	186.0					3																	10134979		2203	4300	6503	10109979	SO:0001583	missense	2177	exon39	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.3860G>T	3.37:g.10134979G>T	ENSP00000398754:p.Ser1287Ile		10109979	NM_033084	Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944233	0.73672	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000419585	T;T;T	0.59364	0.27;0.27;0.27	5.61	5.61	0.85477	.	0.089102	0.85682	D	0.000000	T	0.72669	0.3489	M	0.78223	2.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.992	T	0.69262	-0.5191	10	0.02654	T	1	.	17.1896	0.86875	0.0:0.0:1.0:0.0	.	1287;1287	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	I	1287	ENSP00000287647:S1287I;ENSP00000373318:S1287I;ENSP00000398754:S1287I	ENSP00000287647:S1287I	S	+	2	0	FANCD2	10109979	1.000000	0.71417	0.940000	0.37924	0.901000	0.52897	3.781000	0.55394	2.659000	0.90383	0.650000	0.86243	AGT		0.478	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1		
ATP2B2	491	broad.mit.edu	37	3	10387187	10387187	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:10387187C>T	ENST00000352432.4	-	17	2653	c.2584G>A	c.(2584-2586)Gtc>Atc	p.V862I	ATP2B2_ENST00000343816.4_Missense_Mutation_p.V848I|ATP2B2_ENST00000360273.2_Missense_Mutation_p.V862I|ATP2B2_ENST00000397077.1_Missense_Mutation_p.V817I|ATP2B2_ENST00000383800.4_Missense_Mutation_p.V817I			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	862					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.V817I(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						ACTGCCTTGACGATGCTGCTG	0.577																																					p.V817I	Ovarian(125;1619 1709 15675 19819 38835)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2449A	3						.						226.0	154.0	179.0					3																	10387187		2203	4300	6503	10362187	SO:0001583	missense	491	exon15			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.2584G>A	3.37:g.10387187C>T	ENSP00000324172:p.Val862Ile		10362187	NM_001683	O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	C	32	5.125323	0.94429	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.97620	-4.46;-4.46;-4.46;-4.46;-4.46;-4.46	4.06	4.06	0.47325	HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.97804	0.9279	M	0.63169	1.94	0.80722	D	1	D;D;D	0.76494	0.992;0.999;0.999	D;D;D	0.67548	0.952;0.948;0.915	D	0.98891	1.0773	10	0.87932	D	0	-45.4529	16.6121	0.84886	0.0:1.0:0.0:0.0	.	797;829;862	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	I	862;817;817;862;848;797;718;862	ENSP00000324172:V862I;ENSP00000373311:V817I;ENSP00000380267:V817I;ENSP00000353414:V862I;ENSP00000344677:V848I;ENSP00000414854:V718I	ENSP00000342954:V862I	V	-	1	0	ATP2B2	10362187	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	7.743000	0.85020	1.989000	0.58080	0.484000	0.47621	GTC		0.577	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683	
TBC1D23	55773	broad.mit.edu	37	3	100029311	100029311	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:100029311C>T	ENST00000394144.4	+	14	1485	c.1478C>T	c.(1477-1479)gCt>gTt	p.A493V	TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000344949.5_Missense_Mutation_p.A493V|TBC1D23_ENST00000475134.1_Missense_Mutation_p.A356V	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	493					positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)	p.A493V(1)		breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						ATGACTGTGGCTTTGAAGACA	0.348																																					p.A493V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1478T	3						.						120.0	123.0	122.0					3																	100029311		2203	4300	6503	101512001	SO:0001583	missense	55773	exon14			AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.1478C>T	3.37:g.100029311C>T	ENSP00000377700:p.Ala493Val		101512001	NM_001199198	B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Missense_Mutation	SNP	ENST00000394144.4	37	CCDS56265.1	.	.	.	.	.	.	.	.	.	.	C	33	5.200095	0.94997	.	.	ENSG00000036054	ENST00000344949;ENST00000394144;ENST00000475134	T;T;T	0.34667	1.35;1.41;1.39	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.42720	0.1215	L	0.52126	1.63	0.80722	D	1	P;P	0.47191	0.826;0.891	B;P	0.45610	0.292;0.487	T	0.09818	-1.0657	9	.	.	.	.	20.1001	0.97870	0.0:1.0:0.0:0.0	.	493;493	Q9NUY8;Q9NUY8-2	TBC23_HUMAN;.	V	493;493;356	ENSP00000340693:A493V;ENSP00000377700:A493V;ENSP00000418059:A356V	.	A	+	2	0	TBC1D23	101512001	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.058000	0.76676	2.760000	0.94817	0.655000	0.94253	GCT		0.348	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353150.1	NM_018309	
CCDC80	151887	broad.mit.edu	37	3	112357959	112357959	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:112357959G>T	ENST00000206423.3	-	2	1747	c.794C>A	c.(793-795)cCc>cAc	p.P265H	CCDC80_ENST00000439685.2_Missense_Mutation_p.P265H|CCDC80_ENST00000475181.1_5'Flank	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	265					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.P265H(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CCTACGGATGGGGCCTTGGTC	0.567																																					p.P265H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C794A	3						.						150.0	131.0	137.0					3																	112357959		2203	4300	6503	113840649	SO:0001583	missense	151887	exon2			AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.794C>A	3.37:g.112357959G>T	ENSP00000206423:p.Pro265His		113840649	NM_199511	D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390301	0.82902	.	.	ENSG00000091986	ENST00000206423;ENST00000439685	T;T	0.59502	0.26;0.26	5.27	5.27	0.74061	.	0.055624	0.85682	D	0.000000	T	0.77274	0.4106	M	0.77313	2.365	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.71870	0.944;0.975;0.967	T	0.80200	-0.1481	10	0.72032	D	0.01	-8.3006	18.8937	0.92414	0.0:0.0:1.0:0.0	.	276;265;265	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	H	265	ENSP00000206423:P265H;ENSP00000411814:P265H	ENSP00000206423:P265H	P	-	2	0	CCDC80	113840649	1.000000	0.71417	0.998000	0.56505	0.891000	0.51852	9.827000	0.99397	2.452000	0.82932	0.555000	0.69702	CCC		0.567	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511	
BOC	91653	broad.mit.edu	37	3	113002407	113002407	+	Missense_Mutation	SNP	G	G	A	rs148702312	byFrequency	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:113002407G>A	ENST00000495514.1	+	16	3285	c.2581G>A	c.(2581-2583)Gtc>Atc	p.V861I	BOC_ENST00000273395.4_Missense_Mutation_p.V862I|BOC_ENST00000355385.3_Missense_Mutation_p.V861I			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	861					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.V861I(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			TGTCGGGGTCGTCCTGGGCTC	0.612																																					p.V861I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2581A	3						.	G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	124.0	117.0	119.0		2581	5.7	1.0	3	dbSNP_134	119	1,8599	1.2+/-3.3	0,1,4299	yes	missense	BOC	NM_033254.2	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	861/1115	113002407	2,13004	2203	4300	6503	114485097	SO:0001583	missense	91653	exon16			AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.2581G>A	3.37:g.113002407G>A	ENSP00000418663:p.Val861Ile		114485097	NM_033254	A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	G	33	5.229469	0.95173	2.27E-4	1.16E-4	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.63255	-0.03;-0.02;-0.03	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.77103	0.4081	M	0.66939	2.045	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.997	T	0.71600	-0.4544	10	0.22109	T	0.4	.	18.0536	0.89357	0.0:0.0:1.0:0.0	.	678;862;861	Q9BWV1-2;Q9BWV1-3;Q9BWV1	.;.;BOC_HUMAN	I	861;862;861	ENSP00000418663:V861I;ENSP00000273395:V862I;ENSP00000347546:V861I	ENSP00000273395:V862I	V	+	1	0	BOC	114485097	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.102000	0.94226	2.699000	0.92147	0.563000	0.77884	GTC		0.612	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254	
ZBTB20	26137	broad.mit.edu	37	3	114058138	114058138	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:114058138C>A	ENST00000474710.1	-	5	2118	c.1940G>T	c.(1939-1941)aGc>aTc	p.S647I	ZBTB20_ENST00000462705.1_Missense_Mutation_p.S574I|ZBTB20_ENST00000481632.1_Missense_Mutation_p.S574I|ZBTB20_ENST00000393785.2_Missense_Mutation_p.S574I|ZBTB20_ENST00000471418.1_Missense_Mutation_p.S574I|ZBTB20_ENST00000464560.1_Missense_Mutation_p.S574I|ZBTB20_ENST00000357258.3_Missense_Mutation_p.S574I	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	647						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.S574I(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTTGAGGGAGCTCTTCTGGGT	0.517																																					p.S574I	NSCLC(69;748 1344 9802 11203 30933)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1721T	3						.						208.0	181.0	190.0					3																	114058138		2203	4300	6503	115540828	SO:0001583	missense	26137	exon12			AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1940G>T	3.37:g.114058138C>A	ENSP00000419153:p.Ser647Ile		115540828	NM_001164343	Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410382	0.62399	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31;0.31;0.31	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.73297	0.3569	M	0.66439	2.03	0.80722	D	1	D	0.65815	0.995	P	0.57776	0.827	T	0.73232	-0.4048	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	647	Q9HC78	ZBT20_HUMAN	I	574;574;574;574;647;574;574	ENSP00000420324:S574I;ENSP00000377375:S574I;ENSP00000418092:S574I;ENSP00000419902:S574I;ENSP00000419153:S647I;ENSP00000349803:S574I;ENSP00000417307:S574I	ENSP00000349803:S574I	S	-	2	0	ZBTB20	115540828	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.999000	0.70665	2.941000	0.99782	0.655000	0.94253	AGC		0.517	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642	
ARHGAP31	57514	broad.mit.edu	37	3	119128397	119128397	+	Missense_Mutation	SNP	C	C	T	rs61744178	byFrequency	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:119128397C>T	ENST00000264245.4	+	11	2232	c.1700C>T	c.(1699-1701)cCg>cTg	p.P567L		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	567					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)	p.P567L(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						CCTGAAGCACCGGGGACAGTG	0.498													C|||	99	0.0197684	0.0688	0.0101	5008	,	,		19527	0.0		0.001	False		,,,				2504	0.0				p.P567L	Pancreas(7;176 297 5394 51128 51241)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1700T	3						.	C	LEU/PRO	245,3603		8,229,1687	44.0	45.0	45.0		1700	-7.0	0.0	3	dbSNP_129	45	3,8261		0,3,4129	yes	missense	ARHGAP31	NM_020754.2	98	8,232,5816	TT,TC,CC		0.0363,6.3669,2.0476	benign	567/1445	119128397	248,11864	1924	4132	6056	120611087	SO:0001583	missense	57514	exon11				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.1700C>T	3.37:g.119128397C>T	ENSP00000264245:p.Pro567Leu		120611087	NM_020754	Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	CCDS43135.1	36	0.016483516483516484	34	0.06910569105691057	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	8.038	0.763343	0.15914	0.063669	3.63E-4	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.05855	3.38	5.27	-7.01	0.01594	.	1.377100	0.04663	N	0.409319	T	0.00328	0.0010	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43988	-0.9357	10	0.36615	T	0.2	.	6.569	0.22529	0.2319:0.5678:0.0:0.2003	rs61744178	567	Q2M1Z3	RHG31_HUMAN	L	567	ENSP00000264245:P567L	ENSP00000264245:P567L	P	+	2	0	ARHGAP31	120611087	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-2.231000	0.01206	-0.965000	0.03591	-0.251000	0.11542	CCG		0.498	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2		
ARHGAP31	57514	broad.mit.edu	37	3	119133297	119133297	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:119133297C>A	ENST00000264245.4	+	12	3053	c.2521C>A	c.(2521-2523)Cca>Aca	p.P841T		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	841					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)	p.P841T(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GGAGGCAACCCCAAGACACAG	0.502																																					p.P841T	Pancreas(7;176 297 5394 51128 51241)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2521A	3						.						57.0	59.0	58.0					3																	119133297		1949	4134	6083	120615987	SO:0001583	missense	57514	exon12				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.2521C>A	3.37:g.119133297C>A	ENSP00000264245:p.Pro841Thr		120615987	NM_020754	Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	C	7.885	0.731132	0.15507	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.05649	3.41	4.61	2.73	0.32206	.	0.716551	0.12670	N	0.448845	T	0.03783	0.0107	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44221	-0.9342	10	0.30854	T	0.27	.	2.5353	0.04713	0.1977:0.5152:0.1792:0.1079	.	841	Q2M1Z3	RHG31_HUMAN	T	841	ENSP00000264245:P841T	ENSP00000264245:P841T	P	+	1	0	ARHGAP31	120615987	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.068000	0.11561	0.480000	0.27534	0.561000	0.74099	CCA		0.502	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2		
CCDC14	64770	broad.mit.edu	37	3	123649973	123649973	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:123649973A>C	ENST00000488653.2	-	12	1988	c.1898T>G	c.(1897-1899)gTg>gGg	p.V633G	CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000485727.1_Missense_Mutation_p.V433G|CCDC14_ENST00000310351.4_Missense_Mutation_p.V473G|CCDC14_ENST00000433542.2_Missense_Mutation_p.V592G|CCDC14_ENST00000489746.1_Missense_Mutation_p.V433G			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	633					substantia nigra development (GO:0021762)	centrosome (GO:0005813)		p.V473G(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		TAGTCGAGTCACCTCAGCATC	0.348																																					p.V592G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1775G	3						.						90.0	92.0	91.0					3																	123649973		2203	4300	6503	125132663	SO:0001583	missense	64770	exon11			AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.1898T>G	3.37:g.123649973A>C	ENSP00000420180:p.Val633Gly		125132663	NM_022757	B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Missense_Mutation	SNP	ENST00000488653.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.81|19.81	3.896917|3.896917	0.72639|0.72639	.|.	.|.	ENSG00000175455|ENSG00000175455	ENST00000488653;ENST00000310351;ENST00000485727;ENST00000489746;ENST00000433542;ENST00000409697;ENST00000419247|ENST00000479903	T;T;T;T;T;T;T|.	0.61274|.	0.12;0.12;0.12;0.12;0.12;0.12;0.12|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	0.237434|.	0.34879|.	N|.	0.003605|.	T|.	0.64338|.	0.2589|.	L|L	0.54323|0.54323	1.7|1.7	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.79784|.	0.993;0.993;0.993;0.993|.	T|.	0.62343|.	-0.6874|.	10|.	0.72032|.	D|.	0.01|.	.|.	14.1029|14.1029	0.65068|0.65068	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	633;592;433;474|.	Q49A88;Q49A88-6;Q49A88-4;Q49A88-5|.	CCD14_HUMAN;.;.;.|.	G|G	633;473;433;433;592;614;274|215	ENSP00000420180:V633G;ENSP00000312031:V473G;ENSP00000418002:V433G;ENSP00000418403:V433G;ENSP00000395706:V592G;ENSP00000386866:V614G;ENSP00000400957:V274G|.	ENSP00000312031:V473G|.	V|X	-|-	2|1	0|0	CCDC14|CCDC14	125132663|125132663	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.955000|0.955000	0.61496|0.61496	6.576000|6.576000	0.74023|0.74023	2.254000|2.254000	0.74563|0.74563	0.460000|0.460000	0.39030|0.39030	GTG|TGA		0.348	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_022757	
ZXDC	79364	broad.mit.edu	37	3	126181054	126181054	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:126181054G>T	ENST00000389709.3	-	6	1504	c.1451C>A	c.(1450-1452)cCt>cAt	p.P484H	ZXDC_ENST00000336332.5_Missense_Mutation_p.P484H	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	484					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P484H(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		TTCTAGCTGAGGTAAGAGATC	0.458																																					p.P484H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1451A	3						.						64.0	65.0	64.0					3																	126181054		1946	4167	6113	127663744	SO:0001583	missense	79364	exon6			AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"""Zinc fingers, C2H2-type"""	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.1451C>A	3.37:g.126181054G>T	ENSP00000374359:p.Pro484His		127663744	NM_025112	C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Missense_Mutation	SNP	ENST00000389709.3	37	CCDS43145.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323759	0.60634	.	.	ENSG00000070476	ENST00000389709;ENST00000336332	T;T	0.09163	3.01;3.01	5.15	4.22	0.49857	.	0.285194	0.37136	N	0.002240	T	0.22898	0.0553	L	0.51422	1.61	0.31260	N	0.693025	D;D	0.76494	0.999;0.999	P;P	0.60236	0.871;0.862	T	0.01848	-1.1261	10	0.59425	D	0.04	-4.1072	14.1035	0.65072	0.0:0.1518:0.8482:0.0	.	484;484	Q2QGD7-2;Q2QGD7	.;ZXDC_HUMAN	H	484	ENSP00000374359:P484H;ENSP00000337694:P484H	ENSP00000337694:P484H	P	-	2	0	ZXDC	127663744	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.609000	0.54117	2.548000	0.85928	0.591000	0.81541	CCT		0.458	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370327.2	NM_025112	
SLC35G2	80723	broad.mit.edu	37	3	136573557	136573557	+	Silent	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:136573557T>C	ENST00000446465.2	+	2	883	c.255T>C	c.(253-255)aaT>aaC	p.N85N	RP11-85F14.5_ENST00000474250.1_RNA|SLC35G2_ENST00000393079.3_Silent_p.N85N|RP11-85F14.5_ENST00000461864.1_RNA|RP11-85F14.5_ENST00000470236.1_RNA	NM_025246.2	NP_079522.2			solute carrier family 35, member G2									p.N85N(1)									CAATGATCAATGAGATTGGAC	0.408																																					p.N85N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T255C	3						.						71.0	74.0	73.0					3																	136573557		2203	4300	6503	138056247	SO:0001819	synonymous_variant	80723	exon2			BC022557	CCDS3091.1	3q22.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000168917	ENSG00000168917		"""Solute carriers"""	28480	protein-coding gene	gene with protein product			"""transmembrane protein 22"""	TMEM22		11230166	Standard	NM_001097600		Approved	MGC3295, DKFZp564K2464	uc003erf.4	Q8TBE7	OTTHUMG00000159787	ENST00000446465.2:c.255T>C	3.37:g.136573557T>C			138056247	NM_001097599		Silent	SNP	ENST00000446465.2	37	CCDS3091.1																																																																																				0.408	SLC35G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357317.1	NM_025246	
FOXL2NB	401089	broad.mit.edu	37	3	138669241	138669241	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:138669241G>A	ENST00000383165.3	+	3	486	c.355G>A	c.(355-357)Gcc>Acc	p.A119T		NM_001040061.2	NP_001035150.1	Q6ZUU3	FOXNB_HUMAN		119								p.A119T(1)		large_intestine(1)|lung(3)	4						GTCCCGCGCCGCCGCCGGCTG	0.692																																					p.A119T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G355A	3						.						15.0	21.0	19.0					3																	138669241		1833	4081	5914	140151931	SO:0001583	missense	401089	exon3																														ENST00000383165.3:c.355G>A	3.37:g.138669241G>A	ENSP00000372651:p.Ala119Thr		140151931	NM_001040061	A6NGX0	Missense_Mutation	SNP	ENST00000383165.3	37	CCDS43155.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409895	0.42715	.	.	ENSG00000206262	ENST00000383165	.	.	.	3.57	-2.1	0.07210	.	.	.	.	.	T	0.17066	0.0410	N	0.19112	0.55	0.09310	N	1	B	0.30709	0.291	B	0.21360	0.034	T	0.16247	-1.0409	8	0.87932	D	0	.	2.5526	0.04752	0.3479:0.0:0.2888:0.3633	.	119	Q6ZUU3	CC072_HUMAN	T	119	.	ENSP00000372651:A119T	A	+	1	0	C3orf72	140151931	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.127000	0.15790	-0.360000	0.08138	0.555000	0.69702	GCC		0.692	C3orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357986.1		
TRIM42	287015	broad.mit.edu	37	3	140406674	140406674	+	Missense_Mutation	SNP	C	C	T	rs76729430	byFrequency	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:140406674C>T	ENST00000286349.3	+	3	1341	c.1150C>T	c.(1150-1152)Cgc>Tgc	p.R384C		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	384						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.R384C(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TCTCAAGTTGCGCAGCATTCT	0.373													C|||	3	0.000599042	0.0023	0.0	5008	,	,		23014	0.0		0.0	False		,,,				2504	0.0				p.R384C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1150T	3						.	C	CYS/ARG	4,4402	8.1+/-20.4	0,4,2199	79.0	78.0	79.0		1150	4.7	1.0	3	dbSNP_132	79	0,8600		0,0,4300	yes	missense	TRIM42	NM_152616.4	180	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	probably-damaging	384/724	140406674	4,13002	2203	4300	6503	141889364	SO:0001583	missense	287015	exon3			AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.1150C>T	3.37:g.140406674C>T	ENSP00000286349:p.Arg384Cys		141889364	NM_152616	A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	CCDS3113.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	16.42	3.118982	0.56505	9.08E-4	0.0	ENSG00000155890	ENST00000286349	T	0.39787	1.06	5.63	4.73	0.59995	.	0.090468	0.49305	D	0.000160	T	0.46014	0.1371	N	0.19112	0.55	0.43698	D	0.996151	D	0.89917	1.0	D	0.70935	0.971	T	0.33979	-0.9847	10	0.40728	T	0.16	-10.1416	12.0591	0.53552	0.1706:0.8294:0.0:0.0	.	384	Q8IWZ5	TRI42_HUMAN	C	384	ENSP00000286349:R384C	ENSP00000286349:R384C	R	+	1	0	TRIM42	141889364	0.993000	0.37304	1.000000	0.80357	0.942000	0.58702	2.304000	0.43655	2.676000	0.91093	0.555000	0.69702	CGC		0.373	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616	
PCOLCE2	26577	broad.mit.edu	37	3	142542398	142542398	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:142542398C>A	ENST00000295992.3	-	7	1231	c.925G>T	c.(925-927)Ggc>Tgc	p.G309C	PCOLCE2_ENST00000485766.1_Intron	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	309	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)	p.G309C(1)		NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						CAATAATTGCCCTCCAGAGTC	0.388																																					p.G309C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G925T	3						.						81.0	86.0	84.0					3																	142542398		2203	4300	6503	144025088	SO:0001583	missense	26577	exon7			AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.925G>T	3.37:g.142542398C>A	ENSP00000295992:p.Gly309Cys		144025088	NM_013363	B2RCH9|D3DNG4|Q9BRH3	Missense_Mutation	SNP	ENST00000295992.3	37	CCDS3127.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945137	0.73672	.	.	ENSG00000163710	ENST00000295992	T	0.30448	1.53	5.29	4.06	0.47325	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (1);	0.073865	0.85682	D	0.000000	T	0.24236	0.0587	N	0.08118	0	0.80722	D	1	P	0.42556	0.783	P	0.49637	0.617	T	0.10776	-1.0615	10	0.62326	D	0.03	-25.3716	10.2869	0.43573	0.0:0.0782:0.0:0.9218	.	309	Q9UKZ9	PCOC2_HUMAN	C	309	ENSP00000295992:G309C	ENSP00000295992:G309C	G	-	1	0	PCOLCE2	144025088	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.203000	0.65174	1.009000	0.39289	-0.440000	0.05779	GGC		0.388	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354509.1	NM_013363	
ERICH6	131831	broad.mit.edu	37	3	150396302	150396302	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:150396302A>G	ENST00000295910.6	-	10	1203	c.1151T>C	c.(1150-1152)gTg>gCg	p.V384A	FAM194A_ENST00000491361.1_Missense_Mutation_p.V238A	NM_152394.3	NP_689607.2												p.V384A(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TGGAATATCCACAGAAAGTTG	0.289																																					p.V384A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1151C	3						.						62.0	60.0	60.0					3																	150396302		2201	4291	6492	151878992	SO:0001583	missense	131831	exon10																														ENST00000295910.6:c.1151T>C	3.37:g.150396302A>G	ENSP00000295910:p.Val384Ala		151878992	NM_152394		Missense_Mutation	SNP	ENST00000295910.6	37	CCDS3151.2	.	.	.	.	.	.	.	.	.	.	A	3.166	-0.171030	0.06421	.	.	ENSG00000163645	ENST00000295910;ENST00000491361;ENST00000313811	T;T	0.13901	2.76;2.55	3.85	-2.22	0.06952	.	2.478720	0.01654	N	0.024722	T	0.07548	0.0190	N	0.19112	0.55	0.09310	N	1	B	0.14012	0.009	B	0.12837	0.008	T	0.22906	-1.0203	10	0.08381	T	0.77	0.1543	3.9028	0.09169	0.3883:0.382:0.2297:0.0	.	384	Q7L0X2	F194A_HUMAN	A	384;238;342	ENSP00000295910:V384A;ENSP00000419366:V238A	ENSP00000295910:V384A	V	-	2	0	FAM194A	151878992	0.042000	0.20092	0.015000	0.15790	0.476000	0.33039	0.208000	0.17415	-0.121000	0.11787	0.455000	0.32223	GTG		0.289	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1		
IGSF10	285313	broad.mit.edu	37	3	151165766	151165766	+	Missense_Mutation	SNP	C	C	T	rs148479279		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:151165766C>T	ENST00000282466.3	-	4	2002	c.2003G>A	c.(2002-2004)aGg>aAg	p.R668K		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	668					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.R668K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTCCAAGGGCCTTTGTCCTTT	0.473																																					p.R668K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2003A	3						.	C	LYS/ARG	0,4406		0,0,2203	95.0	97.0	96.0		2003	1.2	0.0	3	dbSNP_134	96	1,8599		0,1,4299	no	missense	IGSF10	NM_178822.4	26	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	668/2624	151165766	1,13005	2203	4300	6503	152648456	SO:0001583	missense	285313	exon4			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.2003G>A	3.37:g.151165766C>T	ENSP00000282466:p.Arg668Lys		152648456	NM_178822	Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.808365	0.00606	0.0	1.16E-4	ENSG00000152580	ENST00000282466	T	0.68903	-0.36	5.26	1.21	0.21127	.	1.048100	0.07523	N	0.910895	T	0.40932	0.1137	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.36648	-0.9739	10	0.05959	T	0.93	.	1.0524	0.01582	0.3487:0.3348:0.1262:0.1903	.	668	Q6WRI0	IGS10_HUMAN	K	668	ENSP00000282466:R668K	ENSP00000282466:R668K	R	-	2	0	IGSF10	152648456	0.000000	0.05858	0.011000	0.14972	0.087000	0.18053	-0.646000	0.05403	1.104000	0.41587	0.591000	0.81541	AGG		0.473	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822	
KCNAB1	7881	broad.mit.edu	37	3	155838592	155838592	+	Silent	SNP	C	C	T	rs377199610		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:155838592C>T	ENST00000490337.1	+	1	256	c.192C>T	c.(190-192)cgC>cgT	p.R64R	KCNAB1_ENST00000389636.5_Silent_p.R64R	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	64					learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)	p.R64R(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CTCTGCTGCGCGAAGTGGAGA	0.577																																					p.R64R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C192T	3						.	C		0,4406		0,0,2203	59.0	55.0	57.0		192	-10.9	0.2	3		57	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KCNAB1	NM_172160.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		64/420	155838592	1,13005	2203	4300	6503	157321286	SO:0001819	synonymous_variant	7881	exon1			U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"""Potassium channels"", ""Aldo-keto reductases"""	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.192C>T	3.37:g.155838592C>T			157321286	NM_172160	A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Silent	SNP	ENST00000490337.1	37	CCDS3174.1																																																																																				0.577	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471	
KCNAB1	7881	broad.mit.edu	37	3	156009754	156009754	+	Intron	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:156009754C>T	ENST00000490337.1	+	2	339				KCNAB1_ENST00000302490.8_Nonsense_Mutation_p.R20*|KCNAB1_ENST00000471742.1_Intron|KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000389634.5_Nonsense_Mutation_p.R20*	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1						learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)	p.R20*(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TGGTGAGGACCGACTTCTGAG	0.602																																					p.R20X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C58T	3						.						75.0	70.0	72.0					3																	156009754		2203	4300	6503	157492448	SO:0001627	intron_variant	7881	exon1			U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"""Potassium channels"", ""Aldo-keto reductases"""	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.276-129651C>T	3.37:g.156009754C>T			157492448	NM_172159	A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Nonsense_Mutation	SNP	ENST00000490337.1	37	CCDS3174.1	.	.	.	.	.	.	.	.	.	.	C	37	6.449954	0.97577	.	.	ENSG00000169282	ENST00000302490;ENST00000389634	.	.	.	5.04	3.01	0.34805	.	0.259562	0.32444	N	0.006084	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.5066	0.55986	0.4624:0.5376:0.0:0.0	.	.	.	.	X	20	.	ENSP00000305858:R20X	R	+	1	2	KCNAB1	157492448	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.371000	0.34250	1.109000	0.41680	0.460000	0.39030	CGA		0.602	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471	
CCNL1	57018	broad.mit.edu	37	3	156877699	156877699	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:156877699T>C	ENST00000295926.3	-	1	303	c.185A>G	c.(184-186)gAg>gGg	p.E62G	CCNL1_ENST00000295925.4_Missense_Mutation_p.E62G|CCNL1_ENST00000461804.1_Missense_Mutation_p.E62G	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	62					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|nucleus (GO:0005634)				NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			CGAGAGCCTCTCCTCCGGAAT	0.622																																					p.E62G												.	.	0			c.A185G	3						.						32.0	28.0	30.0					3																	156877699		2203	4300	6503	158360393	SO:0001583	missense	57018	exon1			AF180920	CCDS3178.1	3q25.31	2008-02-05			ENSG00000163660	ENSG00000163660			20569	protein-coding gene	gene with protein product		613384				11980906	Standard	NM_020307		Approved	ania-6a	uc003fbf.3	Q9UK58	OTTHUMG00000158713	ENST00000295926.3:c.185A>G	3.37:g.156877699T>C	ENSP00000295926:p.Glu62Gly		158360393	NM_020307	B3KMY3|Q6NVY9|Q6UWS7|Q8NI48|Q96QT0|Q9NZF3	Missense_Mutation	SNP	ENST00000295926.3	37	CCDS3178.1	.	.	.	.	.	.	.	.	.	.	T	13.23	2.173788	0.38413	.	.	ENSG00000163660	ENST00000461804;ENST00000295926;ENST00000295925	T;T;T	0.50277	0.75;0.75;0.75	4.8	4.8	0.61643	Cyclin-like (2);	0.051835	0.85682	D	0.000000	T	0.58666	0.2138	M	0.88640	2.97	0.80722	D	1	B;B	0.27594	0.182;0.056	B;B	0.33295	0.161;0.118	T	0.64309	-0.6438	10	0.56958	D	0.05	-6.5375	14.2838	0.66232	0.0:0.0:0.0:1.0	.	62;62	Q9UK58;C9JPL0	CCNL1_HUMAN;.	G	62	ENSP00000420277:E62G;ENSP00000295926:E62G;ENSP00000295925:E62G	ENSP00000295925:E62G	E	-	2	0	CCNL1	158360393	1.000000	0.71417	0.989000	0.46669	0.078000	0.17371	6.973000	0.76116	1.906000	0.55180	0.528000	0.53228	GAG		0.622	CCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351859.1	NM_020307	
VEPH1	79674	broad.mit.edu	37	3	157213057	157213057	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:157213057T>C	ENST00000362010.2	-	2	389	c.82A>G	c.(82-84)Att>Gtt	p.I28V	VEPH1_ENST00000494677.1_Missense_Mutation_p.I28V|VEPH1_ENST00000537559.1_Missense_Mutation_p.I28V|VEPH1_ENST00000392832.2_Missense_Mutation_p.I28V|VEPH1_ENST00000392833.2_Missense_Mutation_p.I28V|VEPH1_ENST00000543418.1_Missense_Mutation_p.I28V|VEPH1_ENST00000468233.1_Missense_Mutation_p.I28V	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	28						plasma membrane (GO:0005886)		p.I28V(1)		autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CTGTCTTCAATCTCAGAGTCA	0.413																																					p.I28V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A82G	3						.						119.0	122.0	121.0					3																	157213057		2203	4300	6503	158695751	SO:0001583	missense	79674	exon2			AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.82A>G	3.37:g.157213057T>C	ENSP00000354919:p.Ile28Val		158695751	NM_001167911	D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	37	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	T	17.05	3.289628	0.59976	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832;ENST00000494677;ENST00000537559;ENST00000468233;ENST00000487753;ENST00000461299;ENST00000489602	T;T;T;T;T;T;T;T	0.33865	2.79;2.86;2.79;2.86;1.39;1.39;1.39;1.39	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.54886	0.1886	L	0.52364	1.645	0.80722	D	1	D;D;D	0.67145	0.996;0.991;0.994	D;D;D	0.77557	0.99;0.978;0.978	T	0.57365	-0.7824	10	0.72032	D	0.01	-16.6047	15.5643	0.76277	0.0:0.0:0.0:1.0	.	28;28;28	Q14D04-2;Q14D04-3;Q14D04	.;.;MELT_HUMAN	V	28	ENSP00000376578:I28V;ENSP00000354919:I28V;ENSP00000446258:I28V;ENSP00000376577:I28V;ENSP00000419193:I28V;ENSP00000443868:I28V;ENSP00000417268:I28V;ENSP00000420097:I28V	ENSP00000354919:I28V	I	-	1	0	VEPH1	158695751	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.749000	0.85096	2.076000	0.62316	0.533000	0.62120	ATT		0.413	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621	
SMC4	10051	broad.mit.edu	37	3	160138528	160138528	+	Splice_Site	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:160138528G>T	ENST00000357388.3	+	13	2309	c.1858G>T	c.(1858-1860)Ggg>Tgg	p.G620W	SMC4_ENST00000360111.2_Splice_Site_p.G620W|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Splice_Site_p.G620W|SMC4_ENST00000469762.1_Splice_Site_p.G595W|SMC4_ENST00000344722.5_Splice_Site_p.G620W	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	620	Flexible hinge.				kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)	p.G620W(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TCATTATTAGGGGGACTTAGG	0.358																																					p.G620W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1858T	3						.						126.0	121.0	123.0					3																	160138528		2203	4300	6503	161621222	SO:0001630	splice_region_variant	10051	exon13			AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.1858-1G>T	3.37:g.160138528G>T			161621222	NM_001002800	A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467686	0.84533	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	D;D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13;-2.13	5.13	5.13	0.70059	SMCs flexible hinge (3);RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.96119	0.8735	H	0.97465	4.01	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;0.998;1.0	D	0.97622	1.0136	10	0.87932	D	0	-14.3773	17.9295	0.88992	0.0:0.0:1.0:0.0	.	620;595;595;620	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	W	620;620;595;620;620;214	ENSP00000349961:G620W;ENSP00000353225:G620W;ENSP00000417964:G595W;ENSP00000420734:G620W;ENSP00000341382:G620W	ENSP00000341382:G620W	G	+	1	0	SMC4	161621222	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	9.566000	0.98157	2.530000	0.85305	0.544000	0.68410	GGG		0.358	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1		Missense_Mutation
SLITRK3	22865	broad.mit.edu	37	3	164907977	164907977	+	Silent	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:164907977T>C	ENST00000475390.1	-	2	1085	c.642A>G	c.(640-642)cgA>cgG	p.R214R	SLITRK3_ENST00000241274.3_Silent_p.R214R			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	214					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.R214R(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						CTAGCATTCCTCGGTAAAAAA	0.423										HNSCC(40;0.11)																											p.R214R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A642G	3						.						66.0	69.0	68.0					3																	164907977		2203	4300	6503	166390671	SO:0001819	synonymous_variant	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.642A>G	3.37:g.164907977T>C			166390671	NM_014926	Q1RMY6	Silent	SNP	ENST00000475390.1	37	CCDS3197.1																																																																																				0.423	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926	
SERPINI2	5276	broad.mit.edu	37	3	167164269	167164269	+	Splice_Site	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:167164269C>T	ENST00000476257.1	-	9	1350	c.1052G>A	c.(1051-1053)gGc>gAc	p.G351D	SERPINI2_ENST00000264677.4_Splice_Site_p.G351D|SERPINI2_ENST00000461846.1_Splice_Site_p.G351D|SERPINI2_ENST00000471111.1_Splice_Site_p.G351D			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	351					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G351D(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						GATGTGTATGCCTATAAAATA	0.308																																					p.G351D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1052A	3						.						94.0	101.0	99.0					3																	167164269		2203	4298	6501	168646963	SO:0001630	splice_region_variant	5276	exon8			AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"""Serine (or cysteine) peptidase inhibitors"""	8945	protein-coding gene	gene with protein product		605587	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2"", ""serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"""	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.1052-1G>A	3.37:g.167164269C>T			168646963	NM_006217		Missense_Mutation	SNP	ENST00000476257.1	37	CCDS3200.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417311	0.42918	.	.	ENSG00000114204	ENST00000476257;ENST00000461846;ENST00000264677;ENST00000471111	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9	5.38	5.38	0.77491	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.93491	0.7923	M	0.89414	3.03	0.48452	D	0.999653	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.94497	0.7706	10	0.87932	D	0	.	16.6358	0.85059	0.0:1.0:0.0:0.0	.	351;351	B4DDY9;O75830	.;SPI2_HUMAN	D	351	ENSP00000420621:G351D;ENSP00000417692:G351D;ENSP00000264677:G351D;ENSP00000419407:G351D	ENSP00000264677:G351D	G	-	2	0	SERPINI2	168646963	0.996000	0.38824	0.510000	0.27712	0.037000	0.13140	4.405000	0.59741	2.516000	0.84829	0.650000	0.86243	GGC		0.308	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350450.1	NM_006217	Missense_Mutation
GHSR	2693	broad.mit.edu	37	3	172166164	172166164	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:172166164G>A	ENST00000241256.2	-	1	82	c.40C>T	c.(40-42)Ctc>Ttc	p.L14F	GHSR_ENST00000427970.1_Missense_Mutation_p.L14F	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	14					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)	p.L14F(2)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GCCAGTGTGAGGTTGAACCCC	0.692																																					p.L14F	Esophageal Squamous(93;641 1401 20883 29581 34638)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C40T	3						.						25.0	25.0	25.0					3																	172166164		2203	4300	6503	173648858	SO:0001583	missense	2693	exon1			AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"""GPCR / Class A : Ghrelin receptors"""	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.40C>T	3.37:g.172166164G>A	ENSP00000241256:p.Leu14Phe		173648858	NM_198407	Q14D12|Q6ISR8|Q92848|Q96RJ7	Missense_Mutation	SNP	ENST00000241256.2	37	CCDS3218.1	.	.	.	.	.	.	.	.	.	.	G	3.057	-0.194007	0.06259	.	.	ENSG00000121853	ENST00000241256;ENST00000427970	T;T	0.68331	-0.32;0.03	4.37	0.0862	0.14445	.	1.164800	0.06272	N	0.695790	T	0.37156	0.0993	N	0.08118	0	0.21579	N	0.999637	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.0	T	0.17899	-1.0354	10	0.10902	T	0.67	-9.2551	0.2215	0.00168	0.2803:0.2609:0.2236:0.2352	.	14;14	Q92847-2;Q92847	.;GHSR_HUMAN	F	14	ENSP00000241256:L14F;ENSP00000395344:L14F	ENSP00000241256:L14F	L	-	1	0	GHSR	173648858	0.497000	0.26067	0.996000	0.52242	0.028000	0.11728	0.304000	0.19228	0.106000	0.17784	-0.379000	0.06801	CTC		0.692	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1	NM_004122	
SPATA16	83893	broad.mit.edu	37	3	172835478	172835478	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:172835478C>A	ENST00000351008.3	-	2	227	c.44G>T	c.(43-45)aGg>aTg	p.R15M		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	15					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)		p.R15M(1)		breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			ATGATAGATCCTATTCACTGC	0.433																																					p.R15M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G44T	3						.						166.0	154.0	158.0					3																	172835478		2203	4300	6503	174318172	SO:0001583	missense	83893	exon2			AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.44G>T	3.37:g.172835478C>A	ENSP00000341765:p.Arg15Met		174318172	NM_031955	Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	ENST00000351008.3	37	CCDS3221.1	.	.	.	.	.	.	.	.	.	.	C	2.556	-0.302975	0.05495	.	.	ENSG00000144962	ENST00000351008	T	0.19938	2.11	5.35	0.187	0.15109	.	0.559693	0.16088	N	0.230219	T	0.11452	0.0279	L	0.27053	0.805	0.09310	N	1	B	0.12630	0.006	B	0.12837	0.008	T	0.23833	-1.0177	10	0.87932	D	0	-5.1054	1.9044	0.03274	0.14:0.4899:0.1359:0.2342	.	15	Q9BXB7	SPT16_HUMAN	M	15	ENSP00000341765:R15M	ENSP00000341765:R15M	R	-	2	0	SPATA16	174318172	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.299000	0.08254	0.007000	0.14760	-0.848000	0.03037	AGG		0.433	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955	
MFN1	55669	broad.mit.edu	37	3	179076697	179076697	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:179076697C>T	ENST00000471841.1	+	4	444	c.318C>T	c.(316-318)ggC>ggT	p.G106G	MFN1_ENST00000280653.7_Silent_p.G106G|MFN1_ENST00000263969.5_Silent_p.G106G	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	106	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.G106G(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			GTGGGATTGGCCATATAACCA	0.378																																					p.G106G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C318T	3						.						166.0	152.0	157.0					3																	179076697		2203	4300	6503	180559391	SO:0001819	synonymous_variant	55669	exon4			AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.318C>T	3.37:g.179076697C>T			180559391	NM_033540	B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Silent	SNP	ENST00000471841.1	37	CCDS3228.1																																																																																				0.378	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927	
CHL1	10752	broad.mit.edu	37	3	439920	439920	+	Silent	SNP	C	C	A	rs373156471		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:439920C>A	ENST00000256509.2	+	25	3747	c.3105C>A	c.(3103-3105)atC>atA	p.I1035I	CHL1_ENST00000397491.2_Silent_p.I1019I	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.I1035I(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)		GTAAAGGTATCGGGAAGATAT	0.353																																					p.I1035I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3105A	3						.						59.0	58.0	58.0					3																	439920		2203	4300	6503	414920	SO:0001819	synonymous_variant	10752	exon25			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.3105C>A	3.37:g.439920C>A			414920	NM_006614	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000256509.2	37	CCDS2556.1																																																																																				0.353	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614	
CNTN4	152330	broad.mit.edu	37	3	2942504	2942504	+	Splice_Site	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:2942504G>A	ENST00000397461.1	+	10	1460	c.1076G>A	c.(1075-1077)cGg>cAg	p.R359Q	CNTN4_ENST00000448906.2_Splice_Site_p.R31Q|CNTN4_ENST00000358480.3_Splice_Site_p.R140Q|CNTN4_ENST00000397459.2_Splice_Site_p.R31Q|CNTN4_ENST00000427331.1_Splice_Site_p.R359Q|CNTN4_ENST00000418658.1_Splice_Site_p.R359Q|CNTN4_ENST00000475817.1_3'UTR	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	359	Ig-like C2-type 4.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.R359Q(1)|p.R31Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CTGCTAACTCGGGTAAGCAAG	0.408																																					p.R31Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G92A	3						.						124.0	96.0	105.0					3																	2942504		2203	4300	6503	2917504	SO:0001630	splice_region_variant	152330	exon2			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.1077+1G>A	3.37:g.2942504G>A			2917504	NM_175613	B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	G	9.674	1.147456	0.21288	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906;ENST00000473845	T;T;T;T;T;T;T	0.72051	1.12;1.12;1.12;1.12;-0.62;-0.62;-0.62	5.31	-3.15	0.05233	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.421232	0.22942	N	0.053765	T	0.47875	0.1469	N	0.25201	0.72	0.29451	N	0.858488	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.42899	-0.9424	10	0.08381	T	0.77	.	12.7091	0.57080	0.7764:0.0:0.2236:0.0	.	359;359;359	Q8IWV2-3;B3KTK4;Q8IWV2	.;.;CNTN4_HUMAN	Q	359;359;359;140;31;31;37	ENSP00000396010:R359Q;ENSP00000380602:R359Q;ENSP00000413642:R359Q;ENSP00000351267:R140Q;ENSP00000380600:R31Q;ENSP00000392077:R31Q;ENSP00000422120:R37Q	ENSP00000351267:R140Q	R	+	2	0	CNTN4	2917504	0.932000	0.31603	0.953000	0.39169	0.846000	0.48090	0.675000	0.25232	-0.467000	0.06932	-0.736000	0.03550	CGG		0.408	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2		Missense_Mutation
ITPR1	3708	broad.mit.edu	37	3	4712494	4712494	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:4712494G>T	ENST00000443694.2	+	17	2043	c.2043G>T	c.(2041-2043)gaG>gaT	p.E681D	ITPR1_ENST00000302640.8_Missense_Mutation_p.E681D|ITPR1_ENST00000354582.6_Missense_Mutation_p.E696D|ITPR1_ENST00000423119.2_Missense_Mutation_p.E696D|ITPR1_ENST00000357086.4_Missense_Mutation_p.E696D|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.E681D			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	696					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.E681D(1)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	ACGAGGAAGAGGTGTGGCTGT	0.498																																					p.E696D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2088T	3						.						64.0	62.0	62.0					3																	4712494		1973	4164	6137	4687494	SO:0001583	missense	3708	exon20			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.2043G>T	3.37:g.4712494G>T	ENSP00000401671:p.Glu681Asp		4687494	NM_001099952	E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	g	19.12	3.766732	0.69878	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.91996	-2.95;-2.95;-2.94;-2.94;-2.95;-2.95	4.57	1.84	0.25277	.	0.000000	0.85682	D	0.000000	D	0.93625	0.7964	M	0.62209	1.925	0.80722	D	1	P;P;D	0.89917	0.949;0.467;1.0	P;B;D	0.91635	0.656;0.186;0.999	D	0.90527	0.4493	10	0.40728	T	0.16	.	7.8695	0.29556	0.4074:0.0:0.5926:0.0	.	681;696;696	E7EPX7;Q14643;G5E9P1	.;ITPR1_HUMAN;.	D	696;681;696;696;696;681;681	ENSP00000306253:E681D;ENSP00000346595:E696D;ENSP00000405934:E696D;ENSP00000349597:E696D;ENSP00000397885:E681D;ENSP00000401671:E681D	ENSP00000306253:E681D	E	+	3	2	ITPR1	4687494	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	0.958000	0.29227	0.199000	0.20427	-0.119000	0.15052	GAG		0.498	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222	
ZNF385D	79750	broad.mit.edu	37	3	21478531	21478531	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:21478531G>A	ENST00000281523.2	-	5	1122	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	202						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.R202W(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TAAAGAAGCCGTTTTGCCTTT	0.473																																					p.R202W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C604T	3						.						201.0	167.0	179.0					3																	21478531		2203	4300	6503	21453535	SO:0001583	missense	79750	exon5			BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.604C>T	3.37:g.21478531G>A	ENSP00000281523:p.Arg202Trp		21453535	NM_024697		Missense_Mutation	SNP	ENST00000281523.2	37	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.608481	0.66558	.	.	ENSG00000151789	ENST00000281523	T	0.47177	0.85	6.09	-3.17	0.05202	Zinc finger, U1-type (1);	0.000000	0.85682	D	0.000000	T	0.42765	0.1217	N	0.14661	0.345	0.27929	N	0.937936	D	0.76494	0.999	P	0.53146	0.719	T	0.57894	-0.7732	10	0.72032	D	0.01	-9.5848	21.5815	0.99957	0.0:0.0:0.2214:0.7786	.	202	Q9H6B1	Z385D_HUMAN	W	202	ENSP00000281523:R202W	ENSP00000281523:R202W	R	-	1	2	ZNF385D	21453535	0.123000	0.22298	0.050000	0.19076	0.994000	0.84299	0.285000	0.18883	-0.562000	0.06086	-0.152000	0.13540	CGG		0.473	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697	
DCLK3	85443	broad.mit.edu	37	3	36759586	36759586	+	Silent	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:36759586A>G	ENST00000416516.2	-	4	2158	c.1668T>C	c.(1666-1668)ccT>ccC	p.P556P	DCLK3_ENST00000498047.1_5'UTR	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	556	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.P556P(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GGTCCCTCTCAGGGCTGCGGA	0.562																																					p.P556P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1668C	3						.						152.0	165.0	161.0					3																	36759586		2056	4216	6272	36734590	SO:0001819	synonymous_variant	85443	exon4			AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"""doublecortin and CaM kinase-like 3"""	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.1668T>C	3.37:g.36759586A>G			36734590	NM_033403		Silent	SNP	ENST00000416516.2	37	CCDS43064.1																																																																																				0.562	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	XM_047355	
TRANK1	9881	broad.mit.edu	37	3	36874984	36874984	+	Silent	SNP	C	C	T	rs186022015	byFrequency	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:36874984C>T	ENST00000429976.2	-	21	6205	c.5958G>A	c.(5956-5958)gcG>gcA	p.A1986A	TRANK1_ENST00000301807.6_Silent_p.A1436A|TRANK1_ENST00000428977.2_Silent_p.A1436A	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1986							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)	p.A1429A(1)|p.A1436A(1)|p.A1986A(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGTGGGCCTCCGCAATGCCAG	0.517													G|||	10	0.00199681	0.0061	0.0	5008	,	,		21248	0.0		0.0	False		,,,				2504	0.002				p.A1986A												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.G5958A	3						.	G		7,3851		0,7,1922	37.0	37.0	37.0		5958	-10.6	0.0	3		37	0,8264		0,0,4132	no	coding-synonymous	TRANK1	NM_014831.2		0,7,6054	TT,TC,CC		0.0,0.1814,0.0577		1986/2926	36874984	7,12115	1929	4132	6061	36849988	SO:0001819	synonymous_variant	9881	exon21			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.5958G>A	3.37:g.36874984C>T			36849988	NM_014831	Q8N8K0	Silent	SNP	ENST00000429976.2	37	CCDS46789.2																																																																																				0.517	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831	
MYD88	4615	broad.mit.edu	37	3	38182003	38182003	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:38182003C>T	ENST00000396334.3	+	3	811	c.627C>T	c.(625-627)cgC>cgT	p.R209R	MYD88_ENST00000424893.1_Silent_p.R164R|MYD88_ENST00000495303.1_Intron|MYD88_ENST00000417037.2_Silent_p.R209R|MYD88_ENST00000481122.1_3'UTR|MYD88_ENST00000443433.2_Intron	NM_002468.4	NP_002459.2	Q99836	MYD88_HUMAN	myeloid differentiation primary response 88	196	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.R209R(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)		TGTCTGACCGCGATGTCCTGC	0.542			Mis		ABC-DLBCL																																p.R164R			Dom	yes		3	3p22	4615	myeloid differentiation primary response gene (88)		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C492T	3						.						173.0	148.0	156.0					3																	38182003		2203	4300	6503	38157007	SO:0001819	synonymous_variant	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.627C>T	3.37:g.38182003C>T			38157007	NM_001172568	B4DKH8|B4DKU4|B4DQ60|B4DQ72|J3KPU4|J3KQ87|J3KQJ6|P78397|Q53XS7	Silent	SNP	ENST00000396334.3	37	CCDS2674.2																																																																																				0.542	MYD88-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253743.4	NM_002468	
MYRIP	25924	broad.mit.edu	37	3	40285999	40285999	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:40285999C>T	ENST00000302541.6	+	13	2505	c.2163C>T	c.(2161-2163)gcC>gcT	p.A721A	MYRIP_ENST00000425621.1_Silent_p.A656A|MYRIP_ENST00000539167.1_Silent_p.A534A|MYRIP_ENST00000396217.3_Silent_p.A632A|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000444716.1_Silent_p.A721A	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	721	Actin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)	p.A721A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		TAGAAGATGCCGCCCGCTGCA	0.577																																					p.A721A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2163T	3						.						66.0	63.0	64.0					3																	40285999		2203	4300	6503	40261003	SO:0001819	synonymous_variant	25924	exon13			AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.2163C>T	3.37:g.40285999C>T			40261003	NM_015460	B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Silent	SNP	ENST00000302541.6	37	CCDS2689.1																																																																																				0.577	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460	
ZNF619	285267	broad.mit.edu	37	3	40528630	40528630	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:40528630G>A	ENST00000314686.5	+	6	986	c.581G>A	c.(580-582)gGc>gAc	p.G194D	ZNF619_ENST00000521353.1_Missense_Mutation_p.G250D|ZNF619_ENST00000429348.2_Missense_Mutation_p.G210D|ZNF619_ENST00000432264.2_Missense_Mutation_p.G210D|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000456778.1_Missense_Mutation_p.G166D|ZNF619_ENST00000447116.2_Missense_Mutation_p.G250D|ZNF619_ENST00000522736.1_Missense_Mutation_p.G201D			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	194					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.G194D(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GGTGAGTGTGGCAGTTACTAC	0.418																																					p.G166D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G497A	3						.						75.0	72.0	73.0					3																	40528630		2203	4300	6503	40503634	SO:0001583	missense	285267	exon4			AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"""Zinc fingers, C2H2-type"", ""-"""	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.581G>A	3.37:g.40528630G>A	ENSP00000322529:p.Gly194Asp		40503634	NM_001145083	B4E271|C9JRN5|D4PHA2|E9PCD9	Missense_Mutation	SNP	ENST00000314686.5	37		.	.	.	.	.	.	.	.	.	.	G	15.18	2.757018	0.49468	.	.	ENSG00000177873	ENST00000314686;ENST00000447116;ENST00000429348;ENST00000456778;ENST00000522736;ENST00000521353;ENST00000432264	T;T;T;T;T;T;T	0.07021	3.23;3.23;3.23;3.23;3.23;3.23;3.23	2.55	1.64	0.23874	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22437	0.0541	M	0.70787	2.145	0.28541	N	0.912124	P;P;P;D;P;D	0.89917	0.928;0.928;0.928;0.987;0.928;1.0	B;B;B;P;B;D	0.71414	0.287;0.287;0.287;0.61;0.287;0.973	T	0.02743	-1.1116	9	0.72032	D	0.01	.	7.0087	0.24851	0.1562:0.0:0.8438:0.0	.	166;210;250;152;201;194	B4E271;C9JRN5;E9PCD9;B7Z9B3;Q17RW3;Q8N2I2	.;.;.;.;.;ZN619_HUMAN	D	194;250;210;166;201;250;210	ENSP00000322529:G194D;ENSP00000411132:G250D;ENSP00000398024:G210D;ENSP00000397232:G166D;ENSP00000428004:G201D;ENSP00000430705:G250D;ENSP00000388710:G210D	ENSP00000322529:G194D	G	+	2	0	ZNF619	40503634	1.000000	0.71417	0.873000	0.34254	0.700000	0.40528	2.559000	0.45888	1.452000	0.47756	0.563000	0.77884	GGC		0.418	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2	NM_173656	
ACKR2	1238	broad.mit.edu	37	3	42906517	42906517	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:42906517G>A	ENST00000422265.1	+	3	698	c.523G>A	c.(523-525)Gtc>Atc	p.V175I	RP11-141M3.5_ENST00000471537.1_RNA|CYP8B1_ENST00000437102.1_Intron|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000442925.1_Missense_Mutation_p.V175I|ACKR2_ENST00000273145.2_Missense_Mutation_p.V175I	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	175					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.V175I(1)									GTCCCTGGCCGTCTCCATCCC	0.557																																					p.V175I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G523A	3						.						74.0	74.0	74.0					3																	42906517		2203	4300	6503	42881521	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.523G>A	3.37:g.42906517G>A	ENSP00000416996:p.Val175Ile		42881521	NM_001296	B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Missense_Mutation	SNP	ENST00000422265.1	37	CCDS2706.1	.	.	.	.	.	.	.	.	.	.	G	2.337	-0.352020	0.05173	.	.	ENSG00000144648	ENST00000442925;ENST00000422265;ENST00000273145	T;T;T	0.71461	-0.57;-0.57;-0.57	4.49	-8.96	0.00761	GPCR, rhodopsin-like superfamily (1);	0.993706	0.08154	N	0.989597	T	0.49081	0.1536	L	0.31664	0.95	0.24087	N	0.995929	B	0.06786	0.001	B	0.10450	0.005	T	0.28106	-1.0054	9	.	.	.	.	8.2982	0.31997	0.351:0.2404:0.4086:0.0	.	175	O00590	CCBP2_HUMAN	I	175	ENSP00000396150:V175I;ENSP00000416996:V175I;ENSP00000273145:V175I	.	V	+	1	0	CCBP2	42881521	0.000000	0.05858	0.005000	0.12908	0.173000	0.22820	-0.736000	0.04882	-1.556000	0.01695	-0.244000	0.11960	GTC		0.557	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256645.2	NM_001296	
SACM1L	22908	broad.mit.edu	37	3	45780151	45780151	+	Silent	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:45780151T>C	ENST00000389061.5	+	17	1668	c.1464T>C	c.(1462-1464)gaT>gaC	p.D488D	SACM1L_ENST00000541314.1_Silent_p.D427D|SACM1L_ENST00000418611.1_Silent_p.D385D	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	488					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)	phosphatase activity (GO:0016791)|phosphatidylinositol bisphosphate phosphatase activity (GO:0034593)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)	p.D488D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		ACTTTTCCGATGGATTTAGAC	0.353																																					p.D488D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1464C	3						.						182.0	169.0	173.0					3																	45780151		2203	4300	6503	45755155	SO:0001819	synonymous_variant	22908	exon17			AB020658	CCDS33745.1	3p21.3	2010-03-11			ENSG00000211456	ENSG00000211456			17059	protein-coding gene	gene with protein product		606569				10048485, 11352561	Standard	NM_014016		Approved	SAC1, KIAA0851	uc003cos.2	Q9NTJ5	OTTHUMG00000156653	ENST00000389061.5:c.1464T>C	3.37:g.45780151T>C			45755155	NM_014016	A8K527|B4DK71|O94935|Q7LA14|Q7LA22|Q96AX7|Q9NQ46|Q9NQ57	Silent	SNP	ENST00000389061.5	37	CCDS33745.1																																																																																				0.353	SACM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345065.2	NM_014016	
PTPN23	25930	broad.mit.edu	37	3	47452833	47452833	+	Frame_Shift_Del	DEL	G	G	-	rs148987427	byFrequency	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:47452833delG	ENST00000265562.4	+	20	3622	c.3545delG	c.(3544-3546)cggfs	p.R1182fs	PTPN23_ENST00000431726.1_Frame_Shift_Del_p.R1056fs	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1182					cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.G1183fs*37(1)		breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAGGCCTTTCGGGGTCAGCTG	0.657																																					p.R1182fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.3545delG	3						.						36.0	35.0	35.0					3																	47452833		2203	4300	6503	47427837	SO:0001589	frameshift_variant	25930	exon20			AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.3545delG	3.37:g.47452833delG	ENSP00000265562:p.Arg1182fs		47427837	NM_015466	A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Frame_Shift_Del	DEL	ENST00000265562.4	37	CCDS2754.1																																																																																				0.657	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466	
RHOA	387	broad.mit.edu	37	3	49405956	49405956	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:49405956G>A	ENST00000418115.1	-	3	566	c.182C>T	c.(181-183)gCt>gTt	p.A61V	RHOA_ENST00000422781.1_Missense_Mutation_p.A61V|RHOA_ENST00000454011.2_Intron|RHOA-IT1_ENST00000428083.1_RNA	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	61					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)	p.A61V(1)		cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TTCCTGCCCAGCTGTGTCCCA	0.473																																					p.A61V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C182T	3						.						109.0	105.0	106.0					3																	49405956		2203	4300	6503	49380960	SO:0001583	missense	387	exon3			BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.182C>T	3.37:g.49405956G>A	ENSP00000400175:p.Ala61Val		49380960	NM_001664	P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	G	36	5.622838	0.96660	.	.	ENSG00000067560	ENST00000418115;ENST00000422781;ENST00000445425	D;D;D	0.88818	-2.43;-2.43;-2.43	5.78	5.78	0.91487	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.96358	0.8812	H	0.95712	3.71	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	D	0.97121	0.9811	10	0.87932	D	0	.	18.6067	0.91268	0.0:0.0:1.0:0.0	.	61	P61586	RHOA_HUMAN	V	61	ENSP00000400175:A61V;ENSP00000413587:A61V;ENSP00000408402:A61V	ENSP00000400175:A61V	A	-	2	0	RHOA	49380960	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.681000	0.98653	2.749000	0.94314	0.551000	0.68910	GCT		0.473	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664	
MST1R	4486	broad.mit.edu	37	3	49924823	49924823	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:49924823G>A	ENST00000296474.3	-	20	4147	c.4120C>T	c.(4120-4122)Cgt>Tgt	p.R1374C	MST1R_ENST00000344206.4_Missense_Mutation_p.R1325C	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1374					cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)	p.R1374C(2)		cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGTTCTGGACGCACATTCATC	0.592																																					p.R1374C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4120T	3						.						132.0	119.0	123.0					3																	49924823		2203	4300	6503	49899827	SO:0001583	missense	4486	exon20			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.4120C>T	3.37:g.49924823G>A	ENSP00000296474:p.Arg1374Cys		49899827	NM_002447	B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	ENST00000296474.3	37	CCDS2807.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.072215	0.36566	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.74526	-0.84;-0.85	5.08	-4.56	0.03431	.	1.663050	0.03147	N	0.167433	T	0.52805	0.1757	N	0.22421	0.69	0.09310	N	1	P	0.46327	0.876	B	0.34452	0.183	T	0.54483	-0.8287	10	0.39692	T	0.17	-0.345	5.9947	0.19487	0.3952:0.3655:0.2394:0.0	.	1374	Q04912	RON_HUMAN	C	1374;1325	ENSP00000296474:R1374C;ENSP00000341325:R1325C	ENSP00000296474:R1374C	R	-	1	0	MST1R	49899827	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-0.680000	0.05211	0.655000	0.94253	CGT		0.592	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1		
PHF7	51533	broad.mit.edu	37	3	52446902	52446902	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:52446902A>G	ENST00000327906.3	+	2	667	c.7A>G	c.(7-9)Act>Gct	p.T3A	BAP1_ENST00000296288.5_5'Flank|PHF7_ENST00000347025.2_Missense_Mutation_p.T3A|PHF7_ENST00000482327.1_3'UTR|BAP1_ENST00000460680.1_5'Flank	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	3						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.T3A(1)		breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		CCGAATGAAGACTGTAAAAGA	0.408																																					p.T3A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A7G	3						.						136.0	125.0	129.0					3																	52446902		2203	4300	6503	52421942	SO:0001583	missense	51533	exon2			AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"""Zinc fingers, PHD-type"""	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495	ENST00000327906.3:c.7A>G	3.37:g.52446902A>G	ENSP00000333024:p.Thr3Ala		52421942	NM_016483	K4DI82	Missense_Mutation	SNP	ENST00000327906.3	37	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	A	13.29	2.193908	0.38707	.	.	ENSG00000010318	ENST00000462532;ENST00000478707;ENST00000327906;ENST00000347025	D;D;D	0.92149	-2.02;-2.02;-2.98	4.49	0.612	0.17591	.	1.093370	0.07049	N	0.831602	D	0.86573	0.5965	L	0.36672	1.1	0.27154	N	0.961349	B;B	0.16802	0.019;0.019	B;B	0.11329	0.006;0.006	T	0.74674	-0.3586	10	0.66056	D	0.02	-17.1857	5.1213	0.14862	0.5431:0.3602:0.0967:0.0	.	3;3	A8K856;Q9BWX1	.;PHF7_HUMAN	A	3	ENSP00000419316:T3A;ENSP00000333024:T3A;ENSP00000246282:T3A	ENSP00000333024:T3A	T	+	1	0	PHF7	52421942	0.999000	0.42202	0.986000	0.45419	0.932000	0.56968	0.715000	0.25822	0.020000	0.15106	0.533000	0.62120	ACT		0.408	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483	
FAM208A	23272	broad.mit.edu	37	3	56680931	56680931	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:56680931A>G	ENST00000493960.2	-	14	1844	c.1834T>C	c.(1834-1836)Tat>Cat	p.Y612H	FAM208A_ENST00000431842.2_Missense_Mutation_p.Y216H|FAM208A_ENST00000355628.5_Missense_Mutation_p.Y612H	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	612							poly(A) RNA binding (GO:0044822)	p.Y216H(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						GGTAACTGATACACTTCAGGC	0.308																																					p.Y612H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1834C	3						.						38.0	39.0	39.0					3																	56680931		2198	4298	6496	56655971	SO:0001583	missense	23272	exon14			AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.1834T>C	3.37:g.56680931A>G	ENSP00000417509:p.Tyr612His		56655971	NM_001112736	A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	ENST00000493960.2	37	CCDS46853.1	.	.	.	.	.	.	.	.	.	.	A	18.45	3.626680	0.66901	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.28255	1.62;1.79;1.83	5.08	5.08	0.68730	.	0.000000	0.53938	D	0.000042	T	0.45438	0.1342	L	0.34521	1.04	0.46499	D	0.99907	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.45512	-0.9256	10	0.87932	D	0	-16.4234	15.3161	0.74078	1.0:0.0:0.0:0.0	.	612;612;216	Q9UK61-3;Q9UK61-4;Q9UK61-2	.;.;.	H	216;612;612	ENSP00000399410:Y216H;ENSP00000417509:Y612H;ENSP00000347845:Y612H	ENSP00000347845:Y612H	Y	-	1	0	C3orf63	56655971	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.126000	0.71635	2.254000	0.74563	0.533000	0.62120	TAT		0.308	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224	
ABHD6	57406	broad.mit.edu	37	3	58270830	58270830	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:58270830G>A	ENST00000478253.1	+	8	1201	c.700G>A	c.(700-702)Gat>Aat	p.D234N	ABHD6_ENST00000295962.4_Missense_Mutation_p.D234N			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	234					long term synaptic depression (GO:0060292)|negative regulation of cell migration (GO:0030336)|regulation of endocannabinoid signaling pathway (GO:2000124)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acylglycerol lipase activity (GO:0047372)	p.D234N(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		AGGCCTTGTCGATGTCCGCAT	0.458																																					p.D234N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G700A	3						.						141.0	120.0	127.0					3																	58270830		2203	4300	6503	58245870	SO:0001583	missense	57406	exon7			AF225418	CCDS2887.1	3p21.2	2006-03-10			ENSG00000163686	ENSG00000163686		"""Abhydrolase domain containing"""	21398	protein-coding gene	gene with protein product							Standard	NM_020676		Approved		uc003djs.4	Q9BV23	OTTHUMG00000159150	ENST00000478253.1:c.700G>A	3.37:g.58270830G>A	ENSP00000420315:p.Asp234Asn		58245870	NM_020676	B2R7Y9|Q6ZMF7	Missense_Mutation	SNP	ENST00000478253.1	37	CCDS2887.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.410128	0.62399	.	.	ENSG00000163686	ENST00000478253;ENST00000295962;ENST00000511761	T;T	0.76448	-1.02;-1.02	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.75436	0.3849	L	0.50333	1.59	0.80722	D	1	D;P	0.52996	0.957;0.905	B;B	0.44044	0.439;0.148	T	0.72137	-0.4381	10	0.18710	T	0.47	-9.994	19.3704	0.94481	0.0:0.0:1.0:0.0	.	234;234	Q9BV23;F5H7L1	ABHD6_HUMAN;.	N	234	ENSP00000420315:D234N;ENSP00000295962:D234N	ENSP00000295962:D234N	D	+	1	0	ABHD6	58245870	1.000000	0.71417	0.924000	0.36721	0.566000	0.35808	6.259000	0.72494	2.666000	0.90696	0.655000	0.94253	GAT		0.458	ABHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353511.1	NM_020676	
PTPRG	5793	broad.mit.edu	37	3	62257136	62257136	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:62257136G>T	ENST00000474889.1	+	21	3465	c.3088G>T	c.(3088-3090)Gga>Tga	p.G1030*	PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG_ENST00000295874.10_Nonsense_Mutation_p.G1001*	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1030	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.G1030*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GCCTGACATGGGAGTTCCCGA	0.517																																					p.G1030X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3088T	3						.						114.0	110.0	112.0					3																	62257136		2203	4300	6503	62232176	SO:0001587	stop_gained	5793	exon21			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.3088G>T	3.37:g.62257136G>T	ENSP00000418112:p.Gly1030*		62232176	NM_002841	B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Nonsense_Mutation	SNP	ENST00000474889.1	37	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	G	45	11.834549	0.99608	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.9111	0.97025	0.0:0.0:1.0:0.0	.	.	.	.	X	1030;1001	.	ENSP00000295874:G1001X	G	+	1	0	PTPRG	62232176	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.768000	0.98965	2.722000	0.93159	0.591000	0.81541	GGA		0.517	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841	
CADPS	8618	broad.mit.edu	37	3	62464048	62464048	+	Missense_Mutation	SNP	C	C	T	rs147087123		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:62464048C>T	ENST00000383710.4	-	23	3566	c.3217G>A	c.(3217-3219)Gcc>Acc	p.A1073T	CADPS_ENST00000283269.9_Missense_Mutation_p.A1034T|CADPS_ENST00000357948.3_Missense_Mutation_p.A994T	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1073	Interaction with DRD2.|MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.A1034T(3)|p.A1073T(2)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GTCTGAAGGGCGTCAAGTTTC	0.483																																					p.A994T												.	.	5	Substitution - Missense(5)	large_intestine(3)|endometrium(2)	c.G2980A	3						.	C	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	126.0	117.0	120.0		3217,2980,3100	6.1	1.0	3	dbSNP_134	120	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CADPS	NM_003716.3,NM_183393.2,NM_183394.2	58,58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	1073/1354,994/1275,1034/1315	62464048	1,13005	2203	4300	6503	62439088	SO:0001583	missense	8618	exon20			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3217G>A	3.37:g.62464048C>T	ENSP00000373215:p.Ala1073Thr		62439088	NM_183393	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396577	0.83011	0.0	1.16E-4	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269	T;T;T	0.33216	1.42;1.42;1.42	6.06	6.06	0.98353	Munc13 homology 1 (1);	0.000000	0.85682	D	0.000000	T	0.61751	0.2372	M	0.80982	2.52	0.80722	D	1	D;D;D;D	0.89917	0.964;1.0;1.0;0.997	P;D;D;P	0.79108	0.556;0.992;0.99;0.778	T	0.62950	-0.6745	10	0.87932	D	0	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	994;1034;1073;1073	Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4	.;.;CAPS1_HUMAN;.	T	1073;1073;994;1034	ENSP00000373215:A1073T;ENSP00000350632:A994T;ENSP00000283269:A1034T	ENSP00000283269:A1034T	A	-	1	0	CADPS	62439088	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.818000	0.86416	2.882000	0.98803	0.655000	0.94253	GCC		0.483	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394	
PDZRN3	23024	broad.mit.edu	37	3	73657781	73657781	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:73657781C>A	ENST00000263666.4	-	2	892	c.778G>T	c.(778-780)Gga>Tga	p.G260*	PDZRN3_ENST00000308537.4_Nonsense_Mutation_p.G260*	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	260	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G260*(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		ATATTGAATCCCAGGGAGCCG	0.438																																					p.G260X												.	.	2	Substitution - Nonsense(2)	large_intestine(1)|breast(1)	c.G778T	3						.						49.0	52.0	51.0					3																	73657781		2203	4300	6503	73740471	SO:0001587	stop_gained	23024	exon2			AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.778G>T	3.37:g.73657781C>A	ENSP00000263666:p.Gly260*		73740471	NM_015009	A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Nonsense_Mutation	SNP	ENST00000263666.4	37	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	C	40	8.280532	0.98740	.	.	ENSG00000121440	ENST00000263666;ENST00000416926;ENST00000308537	.	.	.	5.42	5.42	0.78866	.	1.509860	0.03880	N	0.276983	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.2259	0.93817	0.0:1.0:0.0:0.0	.	.	.	.	X	260	.	ENSP00000263666:G260X	G	-	1	0	PDZRN3	73740471	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.446000	0.73460	2.508000	0.84585	0.655000	0.94253	GGA		0.438	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363	
CNTN3	5067	broad.mit.edu	37	3	74315783	74315783	+	Silent	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:74315783G>A	ENST00000263665.6	-	21	2862	c.2835C>T	c.(2833-2835)agC>agT	p.S945S	CNTN3_ENST00000477856.1_5'UTR	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	945	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.S945S(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)		TATTTTGACTGCTAGTCCTAT	0.338																																					p.S945S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2835T	3						.						147.0	135.0	139.0					3																	74315783		2203	4300	6503	74398473	SO:0001819	synonymous_variant	5067	exon21			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.2835C>T	3.37:g.74315783G>A			74398473	NM_020872	B9EK50|Q9H039	Silent	SNP	ENST00000263665.6	37	CCDS33790.1																																																																																				0.338	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872	
ROBO1	6091	broad.mit.edu	37	3	78717652	78717652	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:78717652C>T	ENST00000464233.1	-	12	1725	c.1612G>A	c.(1612-1614)Gct>Act	p.A538T	ROBO1_ENST00000467549.1_Missense_Mutation_p.A502T|ROBO1_ENST00000436010.2_Missense_Mutation_p.A499T|ROBO1_ENST00000495273.1_Missense_Mutation_p.A502T	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	538	Ig-like C2-type 5.				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.A515T(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)		TCAATGTAAGCACTCCATGTT	0.388																																					p.A538T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1612A	3						.						92.0	89.0	90.0					3																	78717652		1913	4132	6045	78800342	SO:0001583	missense	6091	exon12			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.1612G>A	3.37:g.78717652C>T	ENSP00000420321:p.Ala538Thr		78800342	NM_002941	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.628348	0.87560	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414;ENST00000495961	T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48	5.47	5.47	0.80525	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.047359	0.85682	D	0.000000	D	0.83912	0.5357	M	0.70108	2.13	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	0.997;0.994;1.0;1.0;1.0;0.999	D;D;D;D;D;D	0.97110	0.997;0.962;0.998;1.0;0.998;0.981	T	0.83212	-0.0073	9	.	.	.	.	19.34	0.94337	0.0:1.0:0.0:0.0	.	502;502;538;502;502;499	Q9Y6N7-3;Q1RMC7;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;.;ROBO1_HUMAN;.;.;.	T	499;502;538;502;502;538;71	ENSP00000406043:A499T;ENSP00000420321:A538T;ENSP00000420637:A502T;ENSP00000417992:A502T;ENSP00000418553:A71T	.	A	-	1	0	ROBO1	78800342	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	5.928000	0.70088	2.559000	0.86315	0.655000	0.94253	GCT		0.388	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941	
GBE1	2632	broad.mit.edu	37	3	81630402	81630402	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:81630402C>A	ENST00000429644.2	-	11	2003	c.1360G>T	c.(1360-1362)Gac>Tac	p.D454Y	GBE1_ENST00000489715.1_Missense_Mutation_p.D413Y	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	454					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.D454Y(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)		ATGTTCCAGTCTTCATCTTTA	0.348									Glycogen Storage Disease, type IV																												p.D454Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1360T	3						.						125.0	116.0	119.0					3																	81630402		1853	4093	5946	81713092	SO:0001583	missense	2632	exon11	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.1360G>T	3.37:g.81630402C>A	ENSP00000410833:p.Asp454Tyr		81713092	NM_000158	B3KWV3|Q96EN0	Missense_Mutation	SNP	ENST00000429644.2	37	CCDS54612.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333203	0.81801	.	.	ENSG00000114480	ENST00000429644;ENST00000264326;ENST00000489715;ENST00000536832	D;D	0.86956	-2.19;-2.19	5.33	5.33	0.75918	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.091794	0.64402	D	0.000001	D	0.94981	0.8376	M	0.92923	3.36	0.58432	D	0.999999	B;D	0.76494	0.335;0.999	B;D	0.67231	0.077;0.95	D	0.95614	0.8675	10	0.59425	D	0.04	-17.3835	18.9884	0.92782	0.0:1.0:0.0:0.0	.	413;454	E9PGM4;Q04446	.;GLGB_HUMAN	Y	454;505;413;217	ENSP00000410833:D454Y;ENSP00000419638:D413Y	ENSP00000264326:D505Y	D	-	1	0	GBE1	81713092	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.468000	0.80943	2.490000	0.84030	0.655000	0.94253	GAC		0.348	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352760.2		
C3orf38	285237	broad.mit.edu	37	3	88205314	88205314	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:88205314G>A	ENST00000318887.3	+	3	829	c.519G>A	c.(517-519)tgG>tgA	p.W173*	C3orf38_ENST00000486971.1_Missense_Mutation_p.G138D	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	173					apoptotic process (GO:0006915)			p.W171*(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)		AGCACTTCTGGCATGATGTGA	0.418																																					p.W173X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G519A	3						.						82.0	76.0	78.0					3																	88205314		2203	4300	6503	88288004	SO:0001587	stop_gained	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.519G>A	3.37:g.88205314G>A	ENSP00000322469:p.Trp173*		88288004	NM_173824	B2R8X6|Q8TC85	Nonsense_Mutation	SNP	ENST00000318887.3	37	CCDS2921.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	7.066356|7.066356	0.98040|0.98040	.|.	.|.	ENSG00000179021|ENSG00000179021	ENST00000486971|ENST00000318887	.|.	.|.	.|.	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.47783|.	0.1464|.	.|.	.|.	.|.	0.43050|0.43050	D|D	0.994659|0.994659	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.36744|.	-0.9735|.	5|.	0.10377|0.02654	T|T	0.69|1	-7.7031|-7.7031	19.3318|19.3318	0.94293|0.94293	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	D|X	138|173	.|.	ENSP00000418774:G138D|ENSP00000322469:W173X	G|W	+|+	2|3	0|0	C3orf38|C3orf38	88288004|88288004	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	7.172000|7.172000	0.77604|0.77604	2.802000|2.802000	0.96397|0.96397	0.563000|0.563000	0.77884|0.77884	GGC|TGG		0.418	C3orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341513.1	NM_173824	
EPHA3	2042	broad.mit.edu	37	3	89259332	89259332	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:89259332A>G	ENST00000336596.2	+	3	701	c.476A>G	c.(475-477)gAc>gGc	p.D159G	EPHA3_ENST00000452448.2_Missense_Mutation_p.D159G|EPHA3_ENST00000494014.1_Missense_Mutation_p.D159G	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	159	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.D159G(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GATCTTGGGGACCGTATTCTG	0.418										TSP Lung(6;0.00050)																											p.D159G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A476G	3						.						154.0	137.0	142.0					3																	89259332		2203	4300	6503	89342022	SO:0001583	missense	2042	exon3			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.476A>G	3.37:g.89259332A>G	ENSP00000337451:p.Asp159Gly		89342022	NM_005233	Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.170302	0.38315	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.08896	3.04;3.04;3.04	5.7	5.7	0.88788	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.20373	0.0490	L	0.38838	1.175	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.995;0.999	T	0.01256	-1.1404	9	.	.	.	.	15.9692	0.79998	1.0:0.0:0.0:0.0	.	159;159	P29320;P29320-2	EPHA3_HUMAN;.	G	159	ENSP00000337451:D159G;ENSP00000399926:D159G;ENSP00000419190:D159G	.	D	+	2	0	EPHA3	89342022	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	7.576000	0.82467	2.162000	0.67917	0.528000	0.53228	GAC		0.418	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233	
EPHA3	2042	broad.mit.edu	37	3	89528647	89528647	+	Missense_Mutation	SNP	G	G	A	rs536144760		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:89528647G>A	ENST00000336596.2	+	17	3172	c.2947G>A	c.(2947-2949)Gtg>Atg	p.V983M	EPHA3_ENST00000494014.1_3'UTR	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	983					cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.V983M(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CCCAGTTCCCGTGTAAAGCAC	0.493										TSP Lung(6;0.00050)			G|||	1	0.000199681	0.0008	0.0	5008	,	,		15569	0.0		0.0	False		,,,				2504	0.0				p.V983M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2947A	3						.						68.0	60.0	63.0					3																	89528647		2203	4300	6503	89611337	SO:0001583	missense	2042	exon17			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2947G>A	3.37:g.89528647G>A	ENSP00000337451:p.Val983Met		89611337	NM_005233	Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.259984	0.59321	.	.	ENSG00000044524	ENST00000336596	T	0.73469	-0.75	5.72	5.72	0.89469	Sterile alpha motif/pointed domain (1);	0.000000	0.85682	D	0.000000	D	0.86883	0.6040	M	0.76838	2.35	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	D	0.85673	0.1296	9	.	.	.	.	20.2406	0.98372	0.0:0.0:1.0:0.0	.	983	P29320	EPHA3_HUMAN	M	983	ENSP00000337451:V983M	.	V	+	1	0	EPHA3	89611337	1.000000	0.71417	0.993000	0.49108	0.057000	0.15508	9.420000	0.97426	2.857000	0.98124	0.650000	0.86243	GTG		0.493	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233	
USP13	8975	broad.mit.edu	37	3	179462841	179462841	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr3:179462841C>T	ENST00000263966.3	+	13	2016	c.1545C>T	c.(1543-1545)atC>atT	p.I515I	USP13_ENST00000482333.1_3'UTR|USP13_ENST00000496897.1_Silent_p.I450I	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	515	USP.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.I515I(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			ATGAACTGATCGCTTATGAAC	0.478																																					p.I515I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1545T	3						.						120.0	113.0	115.0					3																	179462841		2203	4300	6503	180945535	SO:0001819	synonymous_variant	8975	exon13			U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"""Ubiquitin-specific peptidases"""	12611	protein-coding gene	gene with protein product		603591	"""ubiquitin specific protease 13 (isopeptidase T-3)"""			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.1545C>T	3.37:g.179462841C>T			180945535	NM_003940	A8K2S3|B4DYF3|D3DNS2|Q96B25	Silent	SNP	ENST00000263966.3	37	CCDS3235.1																																																																																				0.478	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1		
COL25A1	84570	broad.mit.edu	37	4	110222986	110222986	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr4:110222986C>T	ENST00000399132.1	-	2	720	c.190G>A	c.(190-192)Gcc>Acc	p.A64T	COL25A1_ENST00000399127.1_Missense_Mutation_p.A64T|COL25A1_ENST00000399126.1_Missense_Mutation_p.A64T|AC004051.2_ENST00000500526.1_lincRNA	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1									p.A64T(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)		TCGAGAGCGGCGATCCTCGCC	0.602																																					p.A64T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G190A	4						.						95.0	99.0	98.0					4																	110222986		1972	4150	6122	110442435	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.190G>A	4.37:g.110222986C>T	ENSP00000382083:p.Ala64Thr		110442435	NM_198721		Missense_Mutation	SNP	ENST00000399132.1	37	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.974230	0.53720	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653;ENST00000505591	D;T;D	0.91237	-2.6;0.85;-2.81	5.62	3.75	0.43078	.	0.310957	0.23530	N	0.047198	T	0.81288	0.4791	L	0.29908	0.895	0.25134	N	0.990549	P;B;B	0.44659	0.84;0.164;0.102	B;B;B	0.31390	0.129;0.063;0.017	T	0.73023	-0.4113	9	.	.	.	-1.6326	12.9215	0.58234	0.4267:0.5733:0.0:0.0	.	64;64;64	A8MWQ5;Q9BXS0-2;Q9BXS0	.;.;COPA1_HUMAN	T	64	ENSP00000382083:A64T;ENSP00000382078:A64T;ENSP00000382077:A64T	.	A	-	1	0	COL25A1	110442435	0.999000	0.42202	0.999000	0.59377	0.985000	0.73830	1.955000	0.40372	1.452000	0.47756	0.561000	0.74099	GCC		0.602	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518	
CFI	3426	broad.mit.edu	37	4	110663684	110663684	+	Silent	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr4:110663684G>A	ENST00000394634.2	-	12	1704	c.1497C>T	c.(1495-1497)taC>taT	p.Y499Y	CFI_ENST00000394635.3_Silent_p.Y507Y|CFI_ENST00000512148.1_Silent_p.Y492Y	NM_000204.3	NP_000195	P05156	CFAI_HUMAN	complement factor I	499	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.Y499Y(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		AACGATTTCCGTAAAACTTAG	0.358																																					p.Y499Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1497T	4						.						122.0	115.0	118.0					4																	110663684		2202	4299	6501	110883133	SO:0001819	synonymous_variant	3426	exon12			J02770	CCDS34049.1	4q25	2014-09-17	2006-02-10	2006-02-10		ENSG00000205403	3.4.21.45	"""Complement system"""	5394	protein-coding gene	gene with protein product	"""Konglutinogen-activating factor"", ""C3b-inactivator"""	217030	"""I factor (complement)"""	IF		2956252	Standard	NM_000204		Approved	FI, C3b-INA, KAF	uc003hzr.4	P05156		ENST00000394634.2:c.1497C>T	4.37:g.110663684G>A			110883133	NM_000204	O60442	Silent	SNP	ENST00000394634.2	37	CCDS34049.1																																																																																				0.358	CFI-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_000204	
CFI	3426	broad.mit.edu	37	4	110685746	110685746	+	Silent	SNP	G	G	A	rs112492491	byFrequency	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr4:110685746G>A	ENST00000394634.2	-	3	636	c.429C>T	c.(427-429)agC>agT	p.S143S	CFI_ENST00000510800.1_Silent_p.S143S|CFI_ENST00000394635.3_Silent_p.S143S|CFI_ENST00000512148.1_Silent_p.S143S	NM_000204.3	NP_000195	P05156	CFAI_HUMAN	complement factor I	143	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.S143S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TGCTCCAGCTGCTTTTGCATA	0.423																																					p.S143S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C429T	4						.	G		6,4400	11.4+/-27.6	0,6,2197	222.0	191.0	202.0		429	-11.7	0.0	4	dbSNP_132	202	0,8600		0,0,4300	no	coding-synonymous	CFI	NM_000204.3		0,6,6497	AA,AG,GG		0.0,0.1362,0.0461		143/584	110685746	6,13000	2203	4300	6503	110905195	SO:0001819	synonymous_variant	3426	exon3			J02770	CCDS34049.1	4q25	2014-09-17	2006-02-10	2006-02-10		ENSG00000205403	3.4.21.45	"""Complement system"""	5394	protein-coding gene	gene with protein product	"""Konglutinogen-activating factor"", ""C3b-inactivator"""	217030	"""I factor (complement)"""	IF		2956252	Standard	NM_000204		Approved	FI, C3b-INA, KAF	uc003hzr.4	P05156		ENST00000394634.2:c.429C>T	4.37:g.110685746G>A			110905195	NM_000204	O60442	Silent	SNP	ENST00000394634.2	37	CCDS34049.1																																																																																				0.423	CFI-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_000204	
ENPEP	2028	broad.mit.edu	37	4	111398161	111398161	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr4:111398161C>T	ENST00000265162.5	+	1	933	c.591C>T	c.(589-591)aaC>aaT	p.N197N		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	197					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N197N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		GCTGGCTGAACGGCTCCCTCG	0.507																																					p.N197N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C591T	4						.						51.0	56.0	54.0					4																	111398161		2203	4300	6503	111617610	SO:0001819	synonymous_variant	2028	exon1			L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.591C>T	4.37:g.111398161C>T			111617610	NM_001977	Q504U2	Silent	SNP	ENST00000265162.5	37	CCDS3691.1																																																																																				0.507	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2		
PITX2	5308	broad.mit.edu	37	4	111539408	111539408	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr4:111539408G>A	ENST00000354925.2	-	7	2532	c.827C>T	c.(826-828)aCg>aTg	p.T276M	PITX2_ENST00000394598.2_Missense_Mutation_p.T276M|PITX2_ENST00000306732.3_Missense_Mutation_p.T283M|PITX2_ENST00000355080.5_Missense_Mutation_p.T230M|PITX2_ENST00000394595.3_3'UTR|RP11-380D23.2_ENST00000503456.1_lincRNA|PITX2_ENST00000556049.1_5'Flank	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	276					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.T283M(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		CGAGTTACACGTGTCCCTATA	0.592																																					p.T276M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C827T	4						.						59.0	57.0	57.0					4																	111539408		2203	4300	6503	111758857	SO:0001583	missense	5308	exon5			U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"""Homeoboxes / PRD class"""	9005	protein-coding gene	gene with protein product		601542	"""paired-like homeodomain transcription factor 2"""	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.827C>T	4.37:g.111539408G>A	ENSP00000347004:p.Thr276Met		111758857	NM_153426	A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Missense_Mutation	SNP	ENST00000354925.2	37	CCDS3692.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698403	0.68386	.	.	ENSG00000164093	ENST00000306732;ENST00000394598;ENST00000355080;ENST00000354925;ENST00000511837	D;D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26;-3.26	5.68	4.81	0.61882	Paired-like homeodomain protein, OAR (1);	0.088955	0.85682	D	0.000000	D	0.95771	0.8624	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;P;D;D	0.87578	0.993;0.872;0.998;0.983	D	0.95161	0.8281	10	0.46703	T	0.11	.	16.0307	0.80574	0.0:0.0:0.8651:0.1349	.	230;230;276;283	A8K6C6;Q99697-3;Q99697;Q99697-2	.;.;PITX2_HUMAN;.	M	283;276;230;276;276	ENSP00000304169:T283M;ENSP00000378097:T276M;ENSP00000347192:T230M;ENSP00000347004:T276M;ENSP00000421454:T276M	ENSP00000304169:T283M	T	-	2	0	PITX2	111758857	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.992000	0.88273	2.689000	0.91719	0.655000	0.94253	ACG		0.592	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256308.2		
FAT4	79633	broad.mit.edu	37	4	126370789	126370789	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr4:126370789G>A	ENST00000394329.3	+	9	8631	c.8618G>A	c.(8617-8619)aGc>aAc	p.S2873N	FAT4_ENST00000335110.5_Missense_Mutation_p.S1171N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2873	Cadherin 28. {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.S2873N(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						CCAAGATTTAGCAGAACTTCC	0.403																																					p.S2873N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G8618A	4						.						86.0	84.0	84.0					4																	126370789		2203	4299	6502	126590239	SO:0001583	missense	79633	exon9			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.8618G>A	4.37:g.126370789G>A	ENSP00000377862:p.Ser2873Asn		126590239	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	7.446	0.641606	0.14451	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.02606	4.23;4.23	5.51	3.71	0.42584	Cadherin (2);Cadherin-like (1);	0.248852	0.21060	U	0.080842	T	0.02807	0.0084	L	0.39898	1.24	0.35416	D	0.792806	P;P;P	0.40834	0.493;0.469;0.73	B;B;B	0.32624	0.116;0.149;0.147	T	0.53034	-0.8495	10	0.48119	T	0.1	.	11.004	0.47622	0.0747:0.3032:0.6221:0.0	.	1171;2873;2873	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	N	2873;1171	ENSP00000377862:S2873N;ENSP00000335169:S1171N	ENSP00000335169:S1171N	S	+	2	0	FAT4	126590239	1.000000	0.71417	0.990000	0.47175	0.153000	0.21895	4.172000	0.58243	1.418000	0.47098	0.655000	0.94253	AGC		0.403	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
SLC25A31	83447	broad.mit.edu	37	4	128685486	128685486	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr4:128685486G>A	ENST00000281154.4	+	3	617	c.449G>A	c.(448-450)cGa>cAa	p.R150Q		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	150					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.R150Q(1)		NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						GATTTTGCCCGAACCCGATTA	0.388																																					p.R150Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G449A	4						.						103.0	98.0	99.0					4																	128685486		2203	4300	6503	128904936	SO:0001583	missense	83447	exon3			AL136857	CCDS3733.1	4q28	2013-05-22			ENSG00000151475	ENSG00000151475		"""Solute carriers"""	25319	protein-coding gene	gene with protein product		610796				15670820	Standard	NM_031291		Approved	DKFZP434N1235, ANT4	uc003ifl.3	Q9H0C2	OTTHUMG00000133300	ENST00000281154.4:c.449G>A	4.37:g.128685486G>A	ENSP00000281154:p.Arg150Gln		128904936	NM_031291		Missense_Mutation	SNP	ENST00000281154.4	37	CCDS3733.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013925	0.93404	.	.	ENSG00000151475	ENST00000281154	T	0.80738	-1.41	5.0	4.16	0.48862	Mitochondrial carrier domain (2);	0.000000	0.42964	D	0.000637	D	0.93229	0.7843	H	0.98629	4.285	0.41310	D	0.987101	D	0.89917	1.0	D	0.87578	0.998	D	0.94918	0.8071	10	0.87932	D	0	-4.6403	12.2691	0.54695	0.0831:0.0:0.9169:0.0	.	150	Q9H0C2	ADT4_HUMAN	Q	150	ENSP00000281154:R150Q	ENSP00000281154:R150Q	R	+	2	0	SLC25A31	128904936	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.756000	0.74919	1.342000	0.45619	0.655000	0.94253	CGA		0.388	SLC25A31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257094.2	NM_031291	
SCLT1	132320	broad.mit.edu	37	4	129867273	129867273	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr4:129867273T>C	ENST00000281142.5	-	16	1831	c.1328A>G	c.(1327-1329)tAc>tGc	p.Y443C	SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000503215.1_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	443					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)	p.Y443C(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						CAGTTTTCTGTAATCACTCTC	0.343																																					p.Y443C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1328G	4						.						103.0	96.0	98.0					4																	129867273		2202	4298	6500	130086723	SO:0001583	missense	132320	exon16			AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.1328A>G	4.37:g.129867273T>C	ENSP00000281142:p.Tyr443Cys		130086723	NM_144643	A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	ENST00000281142.5	37	CCDS3740.1	.	.	.	.	.	.	.	.	.	.	T	10.86	1.469183	0.26423	.	.	ENSG00000151466	ENST00000281142	T	0.29655	1.56	4.39	1.92	0.25849	.	0.520978	0.20360	N	0.093862	T	0.26846	0.0657	L	0.60455	1.87	0.80722	D	1	B	0.28178	0.202	B	0.28991	0.097	T	0.03534	-1.1027	9	.	.	.	2.0947	7.9413	0.29961	0.0:0.1773:0.0:0.8227	.	443	Q96NL6	SCLT1_HUMAN	C	443	ENSP00000281142:Y443C	.	Y	-	2	0	SCLT1	130086723	1.000000	0.71417	0.999000	0.59377	0.952000	0.60782	0.614000	0.24314	0.189000	0.20188	0.454000	0.30748	TAC		0.343	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643	
NAA15	80155	broad.mit.edu	37	4	140264080	140264080	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr4:140264080C>T	ENST00000296543.5	+	5	826	c.503C>T	c.(502-504)gCa>gTa	p.A168V	NAA15_ENST00000398947.1_Missense_Mutation_p.A168V|NAA15_ENST00000480277.2_3'UTR	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	168					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)	p.A168V(1)		NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GAAATGGCAGCAAAGATTTTA	0.343																																					p.A168V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C503T	4						.						89.0	84.0	86.0					4																	140264080		1823	4088	5911	140483530	SO:0001583	missense	80155	exon5			AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.503C>T	4.37:g.140264080C>T	ENSP00000296543:p.Ala168Val		140483530	NM_057175	D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	ENST00000296543.5	37	CCDS43270.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.767255	0.49574	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	T;T	0.51071	0.72;0.72	5.03	5.03	0.67393	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.058843	0.64402	D	0.000005	T	0.22475	0.0542	N	0.01228	-0.945	0.80722	D	1	B	0.17038	0.02	B	0.17722	0.019	T	0.16070	-1.0415	10	0.13470	T	0.59	-13.71	18.9206	0.92523	0.0:1.0:0.0:0.0	.	168	Q9BXJ9	NAA15_HUMAN	V	168;42;168	ENSP00000296543:A168V;ENSP00000381920:A168V	ENSP00000296543:A168V	A	+	2	0	NAA15	140483530	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.487000	0.66863	2.777000	0.95525	0.591000	0.81541	GCA		0.343	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175	
CPEB2	132864	broad.mit.edu	37	4	15067885	15067885	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr4:15067885C>T	ENST00000507071.1	+	11	1738	c.1651C>T	c.(1651-1653)Cag>Tag	p.Q551*	CPEB2_ENST00000382401.3_Nonsense_Mutation_p.Q524*|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000382395.3_Nonsense_Mutation_p.Q529*|CPEB2_ENST00000541112.1_Nonsense_Mutation_p.Q988*|CPEB2_ENST00000345451.3_Nonsense_Mutation_p.Q521*|CPEB2_ENST00000259997.5_Nonsense_Mutation_p.Q559*|CPEB2_ENST00000538197.1_Nonsense_Mutation_p.Q996*|CPEB2_ENST00000442003.2_Nonsense_Mutation_p.Q969*|RP11-665G4.1_ENST00000502344.1_RNA			Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	551					cellular response to arsenic-containing substance (GO:0071243)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to oxidative stress (GO:0034599)|negative regulation of cytoplasmic translation (GO:2000766)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of GTPase activity (GO:0034260)	cytoplasm (GO:0005737)|messenger ribonucleoprotein complex (GO:1990124)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|ribosome binding (GO:0043022)|translation repressor activity, nucleic acid binding (GO:0000900)	p.Q551*(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						CACTTGCCTGCAGTATTACTG	0.478																																					p.Q966X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2896T	4						.						243.0	218.0	227.0					4																	15067885		2203	4300	6503	14676983	SO:0001587	stop_gained	132864	exon11			AY247744	CCDS56325.1, CCDS56326.1	4p15.33	2013-02-12			ENSG00000137449	ENSG00000137449		"""RNA binding motif (RRM) containing"""	21745	protein-coding gene	gene with protein product		610605				12672660	Standard	NM_182485		Approved		uc003gnk.2	Q7Z5Q1	OTTHUMG00000090669	ENST00000507071.1:c.1651C>T	4.37:g.15067885C>T	ENSP00000424084:p.Gln551*		14676983	NM_001177383	E7EPM3|F5H160|Q3B8N6|Q3MI89|Q3MI90|Q3MI92|Q7Z5Q0	Nonsense_Mutation	SNP	ENST00000507071.1	37		.	.	.	.	.	.	.	.	.	.	C	27.4	4.830655	0.91036	.	.	ENSG00000137449	ENST00000538197;ENST00000541112;ENST00000442003;ENST00000507071;ENST00000345451;ENST00000382395;ENST00000382401;ENST00000259997;ENST00000382391	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.5218	20.5753	0.99366	0.0:1.0:0.0:0.0	.	.	.	.	X	996;988;969;551;521;529;524;559;538	.	ENSP00000259997:Q559X	Q	+	1	0	CPEB2	14676983	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.868000	0.98415	0.557000	0.71058	CAG		0.478	CPEB2-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000207349.2	XM_059607	
OTUD4	54726	broad.mit.edu	37	4	146067471	146067471	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr4:146067471C>T	ENST00000447906.2	-	14	1557	c.1370G>A	c.(1369-1371)cGt>cAt	p.R457H	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000454497.2_Missense_Mutation_p.R392H			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	457					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)	p.R391H(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					ATAGAGTAAACGGGATTCTTC	0.408																																					p.R392H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1175A	4						.						136.0	139.0	138.0					4																	146067471		2203	4300	6503	146286921	SO:0001583	missense	54726	exon14				CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.1370G>A	4.37:g.146067471C>T	ENSP00000395487:p.Arg457His		146286921	NM_001102653	B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37		.	.	.	.	.	.	.	.	.	.	C	20.8	4.054789	0.75960	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.34072	1.39;1.38	5.85	5.85	0.93711	.	0.090608	0.46442	D	0.000297	T	0.50990	0.1648	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.67725	0.953;0.899	T	0.43782	-0.9370	10	0.36615	T	0.2	-14.7476	9.849	0.41046	0.0:0.7874:0.1406:0.072	.	457;456	G3V0I6;Q01804	.;OTUD4_HUMAN	H	392;457	ENSP00000409279:R392H;ENSP00000395487:R457H	ENSP00000395487:R457H	R	-	2	0	OTUD4	146286921	0.989000	0.36119	0.998000	0.56505	0.993000	0.82548	2.597000	0.46214	2.773000	0.95371	0.655000	0.94253	CGT		0.408	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493	
MAB21L2	10586	broad.mit.edu	37	4	151504504	151504504	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr4:151504504G>A	ENST00000317605.4	+	1	1428	c.323G>A	c.(322-324)cGg>cAg	p.R108Q	LRBA_ENST00000357115.3_Intron|RP11-1336O20.2_ENST00000507934.1_RNA|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000503716.1_5'Flank|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000507224.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	108					camera-type eye development (GO:0043010)|embryonic body morphogenesis (GO:0010172)|eye development (GO:0001654)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)		p.R108Q(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		GGGCGGAAGCGGAGCATGTCT	0.627																																					p.R108Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G323A	4						.						98.0	93.0	95.0					4																	151504504		2203	4300	6503	151723954	SO:0001583	missense	10586	exon1			AF155219	CCDS3774.1	4q31.3	2013-10-22	2001-11-28		ENSG00000181541	ENSG00000181541			6758	protein-coding gene	gene with protein product		604357	"""mab-21 (C. elegans)-like 2"""				Standard	NM_006439		Approved		uc003ilw.3	Q9Y586	OTTHUMG00000161442	ENST00000317605.4:c.323G>A	4.37:g.151504504G>A	ENSP00000324701:p.Arg108Gln		151723954	NM_006439	B3KP37|Q9HBA7	Missense_Mutation	SNP	ENST00000317605.4	37	CCDS3774.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977149	0.92982	.	.	ENSG00000181541	ENST00000317605	T	0.08896	3.04	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.32376	0.0827	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.09465	-1.0673	10	0.13108	T	0.6	-15.0585	20.2985	0.98592	0.0:0.0:1.0:0.0	.	108	Q9Y586	MB212_HUMAN	Q	108	ENSP00000324701:R108Q	ENSP00000324701:R108Q	R	+	2	0	MAB21L2	151723954	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.869000	0.99810	2.793000	0.96121	0.655000	0.94253	CGG		0.627	MAB21L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364937.1	NM_006439	
FGFBP1	9982	broad.mit.edu	37	4	15937903	15937903	+	Missense_Mutation	SNP	C	C	T	rs199528852		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr4:15937903C>T	ENST00000382333.1	-	3	647	c.353G>A	c.(352-354)cGg>cAg	p.R118Q	FGFBP1_ENST00000259988.2_Missense_Mutation_p.R118Q	NM_005130.4	NP_005121.1	Q14512	FGFP1_HUMAN	fibroblast growth factor binding protein 1	118					cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)	p.R118Q(1)		NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						GCGCAGATTCCGGGCAACTTG	0.443																																					p.R118Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G353A	4						.						99.0	97.0	98.0					4																	15937903		2203	4300	6503	15547001	SO:0001583	missense	9982	exon2			M60047	CCDS3418.1	4p15.32	2008-02-05			ENSG00000137440	ENSG00000137440			19695	protein-coding gene	gene with protein product		607737				11148217, 1885605	Standard	NM_005130		Approved	HBP17, FGFBP	uc003gom.3	Q14512	OTTHUMG00000097745	ENST00000382333.1:c.353G>A	4.37:g.15937903C>T	ENSP00000371770:p.Arg118Gln		15547001	NM_005130	A8K5J2	Missense_Mutation	SNP	ENST00000382333.1	37	CCDS3418.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189404	0.57909	.	.	ENSG00000137440	ENST00000382333;ENST00000259988	T;T	0.14640	2.49;2.49	5.65	4.81	0.61882	.	0.115168	0.64402	D	0.000017	T	0.30572	0.0769	M	0.77103	2.36	0.25202	N	0.990048	D	0.62365	0.991	P	0.54100	0.742	T	0.19224	-1.0312	10	0.87932	D	0	-18.9365	13.4978	0.61436	0.0:0.9236:0.0:0.0764	.	118	Q14512	FGFP1_HUMAN	Q	118	ENSP00000371770:R118Q;ENSP00000259988:R118Q	ENSP00000259988:R118Q	R	-	2	0	FGFBP1	15547001	0.563000	0.26594	0.078000	0.20375	0.294000	0.27393	3.144000	0.50616	1.408000	0.46895	0.643000	0.83706	CGG		0.443	FGFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214974.1	NM_005130	
FBXW7	55294	broad.mit.edu	37	4	153271203	153271203	+	Missense_Mutation	SNP	T	T	G	rs201015633		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr4:153271203T>G	ENST00000281708.4	-	3	1804	c.575A>C	c.(574-576)gAa>gCa	p.E192A	FBXW7_ENST00000603841.1_Missense_Mutation_p.E192A|FBXW7_ENST00000296555.5_Missense_Mutation_p.E74A|FBXW7_ENST00000603548.1_Missense_Mutation_p.E192A|FBXW7_ENST00000393956.3_5'Flank|FBXW7_ENST00000263981.5_Missense_Mutation_p.E112A	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	192					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.E192A(4)|p.E112A(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CCTTGTATATTCTGAGACTTT	0.299			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								T|||	1	0.000199681	0.0	0.0014	5008	,	,		13432	0.0		0.0	False		,,,				2504	0.0				p.E112A			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	.	.	5	Substitution - Missense(5)	large_intestine(3)|haematopoietic_and_lymphoid_tissue(2)	c.A335C	4						.	T	ALA/GLU,ALA/GLU,ALA/GLU	2,4378		0,2,2188	22.0	23.0	22.0		221,335,575	6.2	1.0	4		22	3,8557		0,3,4277	yes	missense,missense,missense	FBXW7	NM_001013415.1,NM_018315.4,NM_033632.2	107,107,107	0,5,6465	GG,GT,TT		0.035,0.0457,0.0386	possibly-damaging,possibly-damaging,possibly-damaging	74/590,112/628,192/708	153271203	5,12935	2190	4280	6470	153490653	SO:0001583	missense	55294	exon2			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.575A>C	4.37:g.153271203T>G	ENSP00000281708:p.Glu192Ala		153490653	NM_018315	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	CCDS3777.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	T	16.49	3.137196	0.56936	4.57E-4	3.5E-4	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981	T;T;T	0.57595	0.54;0.44;0.39	6.17	6.17	0.99709	.	0.258675	0.44688	D	0.000440	T	0.55768	0.1941	N	0.19112	0.55	0.80722	D	1	B;P;B	0.43578	0.048;0.811;0.081	B;P;B	0.57846	0.029;0.828;0.043	T	0.51576	-0.8688	10	0.24483	T	0.36	-15.4438	16.8222	0.85835	0.0:0.0:0.0:1.0	.	192;74;112	Q969H0;Q969H0-4;Q969H0-2	FBXW7_HUMAN;.;.	A	192;74;112	ENSP00000281708:E192A;ENSP00000296555:E74A;ENSP00000263981:E112A	ENSP00000263981:E112A	E	-	2	0	FBXW7	153490653	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.425000	0.80255	2.371000	0.80710	0.533000	0.62120	GAA		0.299	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		
MAP9	79884	broad.mit.edu	37	4	156294600	156294600	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr4:156294600C>A	ENST00000311277.4	-	4	432	c.169G>T	c.(169-171)Ggt>Tgt	p.G57C	AC097467.2_ENST00000596165.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.G57C|MAP9_ENST00000379248.2_De_novo_Start_OutOfFrame	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	57					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)		p.G57C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		GAAAAATCACCTAAAGAAACT	0.259																																					p.G57C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G169T	4						.						17.0	18.0	18.0					4																	156294600		2116	4259	6375	156514050	SO:0001583	missense	79884	exon4			AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"""aster-associated protein"""	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.169G>T	4.37:g.156294600C>A	ENSP00000310593:p.Gly57Cys		156514050	NM_001039580	Q4W5I7|Q68DU1|Q9H781|Q9H7B6	De_novo_Start_OutOfFrame	SNP	ENST00000311277.4	37	CCDS35493.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.466075	0.43839	.	.	ENSG00000164114	ENST00000311277;ENST00000515654;ENST00000433024;ENST00000393836	T;T;T	0.09538	2.97;2.97;2.97	6.16	5.32	0.75619	.	0.330662	0.28659	N	0.014572	T	0.21801	0.0525	L	0.36672	1.1	0.80722	D	1	D;B;B	0.89917	1.0;0.232;0.232	D;B;B	0.91635	0.999;0.099;0.099	T	0.00093	-1.2081	10	0.72032	D	0.01	-11.1632	10.4736	0.44652	0.0:0.9147:0.0:0.0853	.	57;57;57	B4DVG9;B9EJB6;Q49MG5	.;.;MAP9_HUMAN	C	57	ENSP00000310593:G57C;ENSP00000427402:G57C;ENSP00000394048:G57C	ENSP00000310593:G57C	G	-	1	0	MAP9	156514050	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	2.146000	0.42216	2.937000	0.99478	0.650000	0.86243	GGT		0.259	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257771.3	NM_001039580	
ETFDH	2110	broad.mit.edu	37	4	159606317	159606317	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr4:159606317C>T	ENST00000511912.1	+	5	884	c.552C>T	c.(550-552)ggC>ggT	p.G184G	ETFDH_ENST00000307738.5_Silent_p.G137G	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	184					cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)	p.G184G(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		GCTGGATGGGCGAACAAGCAG	0.358																																					p.G184G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C552T	4						.						122.0	124.0	123.0					4																	159606317		2203	4300	6503	159825767	SO:0001819	synonymous_variant	2110	exon5			S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.552C>T	4.37:g.159606317C>T			159825767	NM_004453	B4E3R9|J3KND9|Q7Z347	Silent	SNP	ENST00000511912.1	37	CCDS3800.1																																																																																				0.358	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2		
EVC	2121	broad.mit.edu	37	4	5733335	5733335	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr4:5733335C>T	ENST00000264956.6	+	4	752	c.568C>T	c.(568-570)Cgc>Tgc	p.R190C	EVC_ENST00000509451.1_Missense_Mutation_p.R190C|EVC_ENST00000382674.2_Missense_Mutation_p.R190C	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	190					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R190C(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				GTTTCTCAGCCGCACCTTCCT	0.622																																					p.R190C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C568T	4						.						68.0	58.0	62.0					4																	5733335		2203	4300	6503	5784236	SO:0001583	missense	2121	exon4			AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.568C>T	4.37:g.5733335C>T	ENSP00000264956:p.Arg190Cys		5784236	NM_153717		Missense_Mutation	SNP	ENST00000264956.6	37	CCDS3383.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.878481	0.33162	.	.	ENSG00000072840	ENST00000264956;ENST00000382674;ENST00000509451	T;T;T	0.55413	0.52;0.52;0.55	4.06	2.11	0.27256	.	0.220853	0.39615	N	0.001303	T	0.36331	0.0963	L	0.39397	1.21	0.46823	D	0.999214	B	0.31100	0.308	B	0.26202	0.067	T	0.18429	-1.0337	10	0.42905	T	0.14	.	5.9946	0.19487	0.2909:0.6083:0.0:0.1008	.	190	P57679	EVC_HUMAN	C	190	ENSP00000264956:R190C;ENSP00000372120:R190C;ENSP00000426774:R190C	ENSP00000264956:R190C	R	+	1	0	EVC	5784236	0.249000	0.23941	0.958000	0.39756	0.967000	0.64934	0.538000	0.23160	1.028000	0.39785	0.561000	0.74099	CGC		0.622	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1		
ABLIM2	84448	broad.mit.edu	37	4	8037961	8037961	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr4:8037961G>A	ENST00000341937.5	-	10	1026	c.962C>T	c.(961-963)gCc>gTc	p.A321V	ABLIM2_ENST00000447017.2_Missense_Mutation_p.A321V|ABLIM2_ENST00000545242.1_Missense_Mutation_p.A321V|ABLIM2_ENST00000515079.1_5'UTR|ABLIM2_ENST00000296372.8_Missense_Mutation_p.A321V|ABLIM2_ENST00000546334.1_Missense_Mutation_p.A321V|ABLIM2_ENST00000505872.1_Missense_Mutation_p.A321V|ABLIM2_ENST00000407564.3_Missense_Mutation_p.A321V|ABLIM2_ENST00000361581.5_Missense_Mutation_p.A321V|ABLIM2_ENST00000361737.5_Missense_Mutation_p.A321V|ABLIM2_ENST00000318888.4_Missense_Mutation_p.A78V|ABLIM2_ENST00000428004.2_Missense_Mutation_p.A321V|ABLIM2_ENST00000514025.1_Missense_Mutation_p.A78V	NM_001130084.1	NP_001123556.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	321					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|myofibril (GO:0030016)	zinc ion binding (GO:0008270)	p.A321V(1)		NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						GTCATAGATGGCCTTACTTTT	0.577																																					p.A321V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C962T	4						.						120.0	135.0	130.0					4																	8037961		2025	4172	6197	8088861	SO:0001583	missense	84448	exon10			AB058711	CCDS47011.1, CCDS47012.1, CCDS47013.1, CCDS47014.1, CCDS47015.1, CCDS47016.1, CCDS54719.1, CCDS68669.1	4p16.1	2012-05-16			ENSG00000163995	ENSG00000163995			19195	protein-coding gene	gene with protein product		612544	"""actin binding LIM protein 2"""				Standard	NM_001130083		Approved	KIAA1808	uc003gkj.4	Q6H8Q1	OTTHUMG00000057427	ENST00000341937.5:c.962C>T	4.37:g.8037961G>A	ENSP00000342813:p.Ala321Val		8088861	NM_001130083	E9PF39|Q08E71|Q19VH0|Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7	Missense_Mutation	SNP	ENST00000341937.5	37	CCDS47013.1	.	.	.	.	.	.	.	.	.	.	G	33	5.264804	0.95399	.	.	ENSG00000163995	ENST00000361737;ENST00000400045;ENST00000296372;ENST00000545242;ENST00000546334;ENST00000318888;ENST00000514025;ENST00000447017;ENST00000341937;ENST00000361581;ENST00000407564;ENST00000505872;ENST00000428004;ENST00000510277	T;T;T;T;T;T;T;T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.84014	0.5379	M	0.86178	2.8	0.80722	D	1	D;D;D;D;D;D;P;D;D	0.89917	1.0;1.0;0.999;1.0;0.999;1.0;0.798;0.999;0.999	D;D;D;D;D;D;B;D;D	0.91635	0.997;0.999;0.971;0.987;0.997;0.999;0.256;0.995;0.971	D	0.87010	0.2122	10	0.72032	D	0.01	.	18.1489	0.89668	0.0:0.0:1.0:0.0	.	326;321;321;321;321;321;321;78;321	B7Z6W4;Q6H8Q1-6;Q08E71;Q6H8Q1-2;Q6H8Q1-3;Q6H8Q1;Q19VH0;Q6H8Q1-4;E9PF39	.;.;.;.;.;ABLM2_HUMAN;.;.;.	V	321;321;321;321;321;78;78;321;321;321;321;321;321;78	ENSP00000354887:A321V;ENSP00000296372:A321V;ENSP00000441255:A321V;ENSP00000444365:A321V;ENSP00000317020:A78V;ENSP00000423661:A78V;ENSP00000393511:A321V;ENSP00000342813:A321V;ENSP00000355003:A321V;ENSP00000384658:A321V;ENSP00000421283:A321V;ENSP00000389410:A321V;ENSP00000421718:A78V	ENSP00000296372:A321V	A	-	2	0	ABLIM2	8088861	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	9.037000	0.93765	2.274000	0.75844	0.561000	0.74099	GCC		0.577	ABLIM2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358862.2	NM_001130083	
NCAPG	64151	broad.mit.edu	37	4	17839375	17839375	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr4:17839375C>A	ENST00000251496.2	+	16	2593	c.2417C>A	c.(2416-2418)aCa>aAa	p.T806K		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	806					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)		p.T806K(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		GTAGATTTGACAAGACCAAGT	0.418																																					p.T806K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2417A	4						.						158.0	154.0	155.0					4																	17839375		2203	4300	6503	17448473	SO:0001583	missense	64151	exon16			AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"""chromosome condensation protein G"""	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.2417C>A	4.37:g.17839375C>A	ENSP00000251496:p.Thr806Lys		17448473	NM_022346	Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	ENST00000251496.2	37	CCDS3424.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.987680	0.93106	.	.	ENSG00000109805	ENST00000251496	T	0.55234	0.53	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.75554	0.3865	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78871	-0.2033	10	0.87932	D	0	-18.9295	19.19	0.93663	0.0:1.0:0.0:0.0	.	806	Q9BPX3	CND3_HUMAN	K	806	ENSP00000251496:T806K	ENSP00000251496:T806K	T	+	2	0	NCAPG	17448473	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.940000	0.75917	2.612000	0.88384	0.591000	0.81541	ACA		0.418	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1	NM_022346	
ARAP2	116984	broad.mit.edu	37	4	36134966	36134966	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr4:36134966C>T	ENST00000303965.4	-	20	3798	c.3309G>A	c.(3307-3309)tgG>tgA	p.W1103*		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1103	PH 4. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)	p.W1103*(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTGCAGTATGCCAGACTGTGA	0.343																																					p.W1103X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3309A	4						.						133.0	116.0	122.0					4																	36134966		2203	4300	6503	35811361	SO:0001587	stop_gained	116984	exon20			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.3309G>A	4.37:g.36134966C>T	ENSP00000302895:p.Trp1103*		35811361	NM_015230	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Nonsense_Mutation	SNP	ENST00000303965.4	37	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	C	47	13.031061	0.99714	.	.	ENSG00000047365	ENST00000303965	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9332	0.97128	0.0:1.0:0.0:0.0	.	.	.	.	X	1103	.	ENSP00000302895:W1103X	W	-	3	0	ARAP2	35811361	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.702000	0.92279	0.655000	0.94253	TGG		0.343	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230	
RFC1	5981	broad.mit.edu	37	4	39344054	39344054	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr4:39344054delT	ENST00000381897.1	-	4	375	c.242delA	c.(241-243)aatfs	p.N81fs	RFC1_ENST00000349703.2_Frame_Shift_Del_p.N81fs|RFC1_ENST00000418436.1_5'UTR	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	81					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)	p.N81fs*61(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						CTTTTTGGCATTTTTTACCTG	0.353																																					p.N81fs	Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)											.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.242delA	4						.						171.0	169.0	169.0					4																	39344054		2203	4300	6503	39020449	SO:0001589	frameshift_variant	5981	exon4			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.242delA	4.37:g.39344054delT	ENSP00000371321:p.Asn81fs		39020449	NM_002913	A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	De_novo_Start_InFrame	DEL	ENST00000381897.1	37	CCDS56329.1																																																																																				0.353	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913	
PDS5A	23244	broad.mit.edu	37	4	39863849	39863849	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr4:39863849C>T	ENST00000303538.8	-	26	3615	c.3076G>A	c.(3076-3078)Gat>Aat	p.D1026N		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)									p.D1026N(1)		breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TCTTTGATATCACGAAGCTGA	0.279																																					p.D1026N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3076A	4						.						57.0	52.0	54.0					4																	39863849		1809	4054	5863	39540244	SO:0001583	missense	23244	exon26			AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.3076G>A	4.37:g.39863849C>T	ENSP00000303427:p.Asp1026Asn		39540244	NM_001100399		Missense_Mutation	SNP	ENST00000303538.8	37	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	C	34	5.408304	0.96051	.	.	ENSG00000121892	ENST00000303538	.	.	.	5.58	5.58	0.84498	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.71863	0.3390	L	0.36672	1.1	0.80722	D	1	D	0.69078	0.997	D	0.70016	0.967	T	0.68398	-0.5419	8	.	.	.	-18.5969	19.5837	0.95482	0.0:1.0:0.0:0.0	.	1026	Q29RF7	PDS5A_HUMAN	N	1026	.	.	D	-	1	0	PDS5A	39540244	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.786000	0.85741	2.630000	0.89119	0.655000	0.94253	GAT		0.279	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200	
CORIN	10699	broad.mit.edu	37	4	47628472	47628472	+	Silent	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr4:47628472G>A	ENST00000273857.4	-	17	2264	c.2265C>T	c.(2263-2265)tcC>tcT	p.S755S	CORIN_ENST00000515827.1_5'UTR|CORIN_ENST00000508498.1_Silent_p.S616S|CORIN_ENST00000502252.1_Silent_p.S688S|CORIN_ENST00000505909.1_Silent_p.S718S	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	755	SRCR.				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.S755S(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						TCTCCCAGTTGGAGTGTAATG	0.428																																					p.S755S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2265T	4						.						194.0	184.0	187.0					4																	47628472		2203	4300	6503	47323229	SO:0001819	synonymous_variant	10699	exon17			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.2265C>T	4.37:g.47628472G>A			47323229	NM_006587	B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Silent	SNP	ENST00000273857.4	37	CCDS3477.1																																																																																				0.428	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2		
NFXL1	152518	broad.mit.edu	37	4	47912867	47912867	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr4:47912867G>A	ENST00000507489.1	-	3	556	c.380C>T	c.(379-381)aCg>aTg	p.T127M	NFXL1_ENST00000381538.3_Missense_Mutation_p.T127M|NFXL1_ENST00000329043.3_Missense_Mutation_p.T127M	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	127						integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.T127M(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						TGTTATAAACGTATTTGCAAG	0.348																																					p.T127M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C380T	4						.						140.0	143.0	142.0					4																	47912867		2201	4298	6499	47607624	SO:0001583	missense	152518	exon3			AY134856	CCDS3478.2	4p12	2008-02-05			ENSG00000170448	ENSG00000170448			18726	protein-coding gene	gene with protein product	"""ovarian zinc finger protein"""						Standard	NM_152995		Approved	HOZFP	uc003gxp.3	Q6ZNB6	OTTHUMG00000128621	ENST00000507489.1:c.380C>T	4.37:g.47912867G>A	ENSP00000422037:p.Thr127Met		47607624	NM_152995	B1Q2K1|Q86VG1|Q8WVH1	Missense_Mutation	SNP	ENST00000507489.1	37	CCDS3478.2	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196677	0.58126	.	.	ENSG00000170448	ENST00000381538;ENST00000507489;ENST00000329043	T;T;T	0.44083	0.93;0.93;0.93	5.58	5.58	0.84498	.	0.150451	0.43110	D	0.000601	T	0.50326	0.1609	L	0.59436	1.845	0.49798	D	0.999826	D	0.58970	0.984	P	0.48141	0.568	T	0.47182	-0.9137	10	0.40728	T	0.16	-14.4081	19.5641	0.95386	0.0:0.0:1.0:0.0	.	127	Q6ZNB6	NFXL1_HUMAN	M	127	ENSP00000370949:T127M;ENSP00000422037:T127M;ENSP00000333113:T127M	ENSP00000333113:T127M	T	-	2	0	NFXL1	47607624	1.000000	0.71417	0.998000	0.56505	0.698000	0.40448	8.267000	0.89874	2.619000	0.88677	0.591000	0.81541	ACG		0.348	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361636.1	NM_152995	
SLAIN2	57606	broad.mit.edu	37	4	48380055	48380055	+	Silent	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr4:48380055G>A	ENST00000264313.6	+	3	1099	c.681G>A	c.(679-681)caG>caA	p.Q227Q	SLAIN2_ENST00000506375.1_3'UTR|SLAIN2_ENST00000512093.1_Silent_p.Q34Q	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	227					cytoplasmic microtubule organization (GO:0031122)|microtubule nucleation (GO:0007020)|positive regulation of microtubule polymerization (GO:0031116)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.Q227Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						TAGTCAAACAGCTTATACTTC	0.413																																					p.Q227Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G681A	4						.						119.0	117.0	118.0					4																	48380055		1867	4102	5969	48074812	SO:0001819	synonymous_variant	57606	exon3			BC006139	CCDS47051.1	4p12	2008-02-05	2006-09-12	2006-09-12	ENSG00000109171	ENSG00000109171			29282	protein-coding gene	gene with protein product		610492	"""KIAA1458"""	KIAA1458		16546155	Standard	NM_020846		Approved	FLJ21611	uc003gya.4	Q9P270	OTTHUMG00000161701	ENST00000264313.6:c.681G>A	4.37:g.48380055G>A			48074812	NM_020846	A8K4P1|Q8N5R3	Silent	SNP	ENST00000264313.6	37	CCDS47051.1																																																																																				0.413	SLAIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365807.4	NM_020846	
SRP72	6731	broad.mit.edu	37	4	57366765	57366765	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr4:57366765G>A	ENST00000342756.5	+	18	2463	c.1742G>A	c.(1741-1743)cGa>cAa	p.R581Q	SRP72_ENST00000510663.1_Missense_Mutation_p.R520Q	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	581					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)	p.R581Q(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					CTGCCAATGCGAGAACGTTCT	0.428																																					p.R581Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1742A	4						.						83.0	85.0	84.0					4																	57366765		2203	4300	6503	57061522	SO:0001583	missense	6731	exon18			AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"""Tetratricopeptide (TTC) repeat domain containing"""	11303	protein-coding gene	gene with protein product		602122	"""signal recognition particle 72kD"""			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.1742G>A	4.37:g.57366765G>A	ENSP00000342181:p.Arg581Gln		57061522	NM_006947	G5E9Z8|Q7Z3C0	Missense_Mutation	SNP	ENST00000342756.5	37	CCDS3506.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.464049	0.84425	.	.	ENSG00000174780	ENST00000342756;ENST00000537129;ENST00000510663	T;T	0.80214	-1.35;-1.35	5.79	5.79	0.91817	Signal recognition particle, SRP72 subunit, RNA-binding (1);	0.060957	0.64402	D	0.000005	D	0.83138	0.5189	M	0.66378	2.025	0.58432	D	0.999994	P;D	0.58970	0.769;0.984	B;P	0.48189	0.194;0.57	T	0.82818	-0.0269	10	0.39692	T	0.17	.	17.5306	0.87813	0.0:0.0:1.0:0.0	.	520;581	G5E9Z8;O76094	.;SRP72_HUMAN	Q	581;526;520	ENSP00000342181:R581Q;ENSP00000424576:R520Q	ENSP00000342181:R581Q	R	+	2	0	SRP72	57061522	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.645000	0.67909	2.727000	0.93392	0.591000	0.81541	CGA		0.428	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250782.7		
EPHA5	2044	broad.mit.edu	37	4	66361115	66361115	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr4:66361115C>T	ENST00000273854.3	-	4	1657	c.1057G>A	c.(1057-1059)Gca>Aca	p.A353T	EPHA5_ENST00000511294.1_Missense_Mutation_p.A353T|EPHA5_ENST00000354839.4_Missense_Mutation_p.A353T|EPHA5_ENST00000432638.2_Intron	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	353	Cys-rich.				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.A353T(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						CTTGTGCATGCCATTGTGGGT	0.438										TSP Lung(17;0.13)																											p.A353T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1057A	4						.						163.0	160.0	161.0					4																	66361115		2203	4300	6503	66043710	SO:0001583	missense	2044	exon4			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.1057G>A	4.37:g.66361115C>T	ENSP00000273854:p.Ala353Thr		66043710	NM_004439	Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294782	0.81025	.	.	ENSG00000145242	ENST00000273854;ENST00000354839;ENST00000511294	T;T;D	0.97328	1.6;1.6;-4.34	5.84	5.84	0.93424	.	0.000000	0.53938	D	0.000058	D	0.97145	0.9067	M	0.63843	1.955	0.47621	D	0.999473	P;B;P;P	0.47253	0.62;0.278;0.738;0.892	P;B;P;P	0.52109	0.493;0.15;0.69;0.459	D	0.97219	0.9876	10	0.72032	D	0.01	.	14.9315	0.70919	0.143:0.857:0.0:0.0	.	353;353;353;353	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	T	353	ENSP00000273854:A353T;ENSP00000346899:A353T;ENSP00000427638:A353T	ENSP00000273854:A353T	A	-	1	0	EPHA5	66043710	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.539000	0.67199	2.770000	0.95276	0.460000	0.39030	GCA		0.438	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439	
UTP3	57050	broad.mit.edu	37	4	71555800	71555800	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr4:71555800G>A	ENST00000254803.2	+	1	1605	c.1406G>A	c.(1405-1407)cGt>cAt	p.R469H		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	469					brain development (GO:0007420)|chromatin modification (GO:0016568)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R469H(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			TCTGGCATTCGTGCAGGAGTT	0.358																																					p.R469H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1406A	4						.						123.0	129.0	127.0					4																	71555800		2203	4300	6503	71774664	SO:0001583	missense	57050	exon1			AL136590	CCDS3546.1	4q13.3	2008-02-05			ENSG00000132467	ENSG00000132467			24477	protein-coding gene	gene with protein product	"""disrupter of silencing 10"""	611614				12477932	Standard	NM_020368		Approved	FLJ23256, DKFZp761F222, SAS10, CRLZ1	uc003hfo.3	Q9NQZ2	OTTHUMG00000129911	ENST00000254803.2:c.1406G>A	4.37:g.71555800G>A	ENSP00000254803:p.Arg469His		71774664	NM_020368	Q6FI82	Missense_Mutation	SNP	ENST00000254803.2	37	CCDS3546.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350762	0.82132	.	.	ENSG00000132467	ENST00000254803	T	0.34859	1.34	5.46	5.46	0.80206	Something about silencing protein 10 (Sas10), C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.64136	0.2571	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.68236	-0.5462	10	0.72032	D	0.01	-4.7466	16.6575	0.85232	0.0:0.1294:0.8706:0.0	.	469	Q9NQZ2	SAS10_HUMAN	H	469	ENSP00000254803:R469H	ENSP00000254803:R469H	R	+	2	0	UTP3	71774664	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.244000	0.78228	2.713000	0.92767	0.655000	0.94253	CGT		0.358	UTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252163.2	NM_020368	
SHROOM3	57619	broad.mit.edu	37	4	77661497	77661497	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr4:77661497G>A	ENST00000296043.6	+	5	3124	c.2171G>A	c.(2170-2172)cGg>cAg	p.R724Q		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	724					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)		p.R723Q(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TCCTACCCGCGGCCCGAGGGG	0.667																																					p.R724Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2171A	4						.						33.0	42.0	39.0					4																	77661497		2146	4214	6360	77880521	SO:0001583	missense	57619	exon5			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.2171G>A	4.37:g.77661497G>A	ENSP00000296043:p.Arg724Gln		77880521	NM_020859	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	g	16.77	3.213793	0.58452	.	.	ENSG00000138771	ENST00000296043	T	0.32753	1.44	5.65	3.92	0.45320	.	0.596785	0.16370	N	0.217371	T	0.29321	0.0730	L	0.53249	1.67	0.09310	N	0.999996	D;D;D	0.71674	0.994;0.998;0.994	P;P;P	0.45377	0.478;0.478;0.478	T	0.10870	-1.0611	10	0.30078	T	0.28	-7.0235	7.2055	0.25905	0.1481:0.1407:0.7112:0.0	.	548;724;502	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	Q	724	ENSP00000296043:R724Q	ENSP00000296043:R724Q	R	+	2	0	SHROOM3	77880521	0.881000	0.30235	0.059000	0.19551	0.000000	0.00434	1.493000	0.35605	0.740000	0.32651	-1.105000	0.02106	CGG		0.667	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859	
NAA11	84779	broad.mit.edu	37	4	80246587	80246587	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr4:80246587G>A	ENST00000286794.4	-	1	617	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	NAA11_ENST00000513733.1_5'UTR	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	149	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				N-terminal protein amino acid acetylation (GO:0006474)	NatA complex (GO:0031415)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)	p.R149W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						GAGAGATCCCGCTTCATAGCA	0.527																																					p.R149W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C445T	4						.						67.0	68.0	68.0					4																	80246587		2034	4223	6257	80465611	SO:0001583	missense	84779	exon1				CCDS47084.1	4q21.23	2010-05-07	2010-01-14	2010-01-14		ENSG00000156269	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	28125	protein-coding gene	gene with protein product			"""ARD1 homolog B (S. cerevisiae)"""	ARD1B		16638120, 19660095	Standard	NM_032693		Approved	ARD2, hARD2	uc003hlt.4	Q9BSU3		ENST00000286794.4:c.445C>T	4.37:g.80246587G>A	ENSP00000286794:p.Arg149Trp		80465611	NM_032693	Q66K19|Q6P479	Missense_Mutation	SNP	ENST00000286794.4	37	CCDS47084.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.288862	0.59976	.	.	ENSG00000156269	ENST00000286794	T	0.55760	0.5	5.17	4.33	0.51752	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	U	0.000000	T	0.73329	0.3573	M	0.91090	3.175	0.80722	D	1	D	0.69078	0.997	P	0.58266	0.836	T	0.80464	-0.1371	10	0.66056	D	0.02	-15.6902	13.2559	0.60079	0.0:0.0:0.8403:0.1597	.	149	Q9BSU3	NAA11_HUMAN	W	149	ENSP00000286794:R149W	ENSP00000286794:R149W	R	-	1	2	NAA11	80465611	1.000000	0.71417	1.000000	0.80357	0.412000	0.31113	2.682000	0.46934	1.541000	0.49316	0.655000	0.94253	CGG		0.527	NAA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362922.1		
ARHGAP24	83478	broad.mit.edu	37	4	86915844	86915844	+	Missense_Mutation	SNP	A	A	T	rs375534463		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr4:86915844A>T	ENST00000395184.1	+	9	1503	c.1037A>T	c.(1036-1038)aAc>aTc	p.N346I	ARHGAP24_ENST00000395183.2_Missense_Mutation_p.N251I|ARHGAP24_ENST00000264343.4_Missense_Mutation_p.N253I	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	346					activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)	p.N346I(1)|p.N253I(1)		breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GTGAGCAACAACAATGAAATT	0.468																																					p.N253I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A758T	4						.						132.0	126.0	128.0					4																	86915844		2203	4300	6503	87134868	SO:0001583	missense	83478	exon6			AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.1037A>T	4.37:g.86915844A>T	ENSP00000378611:p.Asn346Ile		87134868	NM_031305	Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Missense_Mutation	SNP	ENST00000395184.1	37	CCDS34025.1	.	.	.	.	.	.	.	.	.	.	A	17.42	3.384593	0.61845	.	.	ENSG00000138639	ENST00000395184;ENST00000395183;ENST00000514229;ENST00000264343	T;T;T;T	0.15718	2.75;2.41;2.41;2.4	5.5	5.5	0.81552	.	0.093907	0.64402	D	0.000001	T	0.23532	0.0569	N	0.22421	0.69	0.80722	D	1	D;D;P	0.57257	0.979;0.971;0.933	P;P;P	0.56916	0.777;0.809;0.564	T	0.01824	-1.1266	10	0.39692	T	0.17	.	15.6029	0.76639	1.0:0.0:0.0:0.0	.	251;253;346	Q8N264-3;Q8N264-2;Q8N264	.;.;RHG24_HUMAN	I	346;251;261;253	ENSP00000378611:N346I;ENSP00000378610:N251I;ENSP00000425589:N261I;ENSP00000264343:N253I	ENSP00000264343:N253I	N	+	2	0	ARHGAP24	87134868	1.000000	0.71417	1.000000	0.80357	0.274000	0.26718	8.900000	0.92551	2.086000	0.62901	0.482000	0.46254	AAC		0.468	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	NM_031305	
MAPK10	5602	broad.mit.edu	37	4	87023154	87023154	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr4:87023154A>C	ENST00000359221.3	-	7	983	c.457T>G	c.(457-459)Tta>Gta	p.L153V	MAPK10_ENST00000395169.3_Missense_Mutation_p.L115V|MAPK10_ENST00000395161.2_Missense_Mutation_p.L153V|MAPK10_ENST00000395166.1_Missense_Mutation_p.L115V|MAPK10_ENST00000395160.3_Missense_Mutation_p.L8V|MAPK10_ENST00000361569.2_Missense_Mutation_p.L153V|MAPK10_ENST00000395157.3_Missense_Mutation_p.L8V|MAPK10_ENST00000513839.1_5'UTR|MAPK10_ENST00000449047.2_Missense_Mutation_p.L8V			P53779	MK10_HUMAN	mitogen-activated protein kinase 10	153	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|JUN kinase activity (GO:0004705)|MAP kinase kinase activity (GO:0004708)	p.L153V(1)|p.L8V(1)		breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		ACTTGACATAAGTTGGCATCC	0.398																																					p.L8V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T22G	4						.						261.0	242.0	249.0					4																	87023154		2203	4300	6503	87242178	SO:0001583	missense	5602	exon2			U07620	CCDS3612.1, CCDS3613.1, CCDS34026.1, CCDS43247.1	4q22-q23	2011-06-09			ENSG00000109339	ENSG00000109339	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6872	protein-coding gene	gene with protein product		602897		PRKM10		8654373, 12436199	Standard	NM_002753		Approved	JNK3, p493F12, p54bSAPK	uc003hpt.3	P53779	OTTHUMG00000130604	ENST00000359221.3:c.457T>G	4.37:g.87023154A>C	ENSP00000352157:p.Leu153Val		87242178	NM_138981	A6NFS3|A6NG28|B3KQ94|Q15707|Q49AP1	Missense_Mutation	SNP	ENST00000359221.3	37	CCDS34026.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.20|19.20	3.780929|3.780929	0.70222|0.70222	.|.	.|.	ENSG00000109339|ENSG00000109339	ENST00000515400|ENST00000395169;ENST00000359221;ENST00000395157;ENST00000361569;ENST00000395166;ENST00000395160;ENST00000449047;ENST00000395161	.|D;D;D;D;D;D;D;D	.|0.92965	.|-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14	5.94|5.94	4.72|4.72	0.59763|0.59763	.|Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.95768|0.95768	0.8623|0.8623	M|M	0.84585|0.84585	2.705|2.705	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	.|0.97110	.|1.0;1.0;0.999;0.999;1.0	D|D	0.95379|0.95379	0.8471|0.8471	7|10	0.87932|0.87932	D|D	0|0	-6.8603|-6.8603	9.9252|9.9252	0.41487|0.41487	0.8516:0.0:0.1484:0.0|0.8516:0.0:0.1484:0.0	.|.	.|39;8;115;153;153	.|B7Z1Z1;Q499Y8;P53779-3;P53779-2;P53779	.|.;.;.;.;MK10_HUMAN	R|V	65|115;153;8;153;115;8;8;153	.|ENSP00000378598:L115V;ENSP00000352157:L153V;ENSP00000378586:L8V;ENSP00000355297:L153V;ENSP00000378595:L115V;ENSP00000378589:L8V;ENSP00000414469:L8V;ENSP00000378590:L153V	ENSP00000309857:L133R|ENSP00000352157:L153V	L|L	-|-	2|1	0|2	MAPK10|MAPK10	87242178|87242178	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.910000|1.910000	0.39927|0.39927	1.031000|1.031000	0.39867|0.39867	0.528000|0.528000	0.53228|0.53228	CTT|TTA		0.398	MAPK10-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000361363.2		
DSPP	1834	broad.mit.edu	37	4	88534324	88534324	+	Missense_Mutation	SNP	C	C	A	rs376443462		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr4:88534324C>A	ENST00000282478.7	+	3	1019	c.986C>A	c.(985-987)tCt>tAt	p.S329Y	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Missense_Mutation_p.S329Y			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	329					biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)	p.S329Y(1)		breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		GAGGAGAATTCTGCTGGTATT	0.413																																					p.S329Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C986A	4						.	C	TYR/SER	1,3759		0,1,1879	46.0	47.0	47.0		986	0.2	0.0	4		47	0,8232		0,0,4116	no	missense	DSPP	NM_014208.3	144	0,1,5995	AA,AC,CC		0.0,0.0266,0.0083	possibly-damaging	329/1302	88534324	1,11991	1880	4116	5996	88753348	SO:0001583	missense	1834	exon4			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.986C>A	4.37:g.88534324C>A	ENSP00000282478:p.Ser329Tyr		88753348	NM_014208	A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.649031	0.29336	2.66E-4	0.0	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.89681	-2.55;-2.55	4.51	0.153	0.14897	.	.	.	.	.	D	0.85358	0.5678	L	0.55481	1.735	0.09310	N	1	P	0.49090	0.919	P	0.46419	0.516	T	0.75709	-0.3223	9	0.62326	D	0.03	7.0602	3.2237	0.06724	0.3863:0.4007:0.0:0.213	.	329	Q9NZW4	DSPP_HUMAN	Y	329	ENSP00000382213:S329Y;ENSP00000282478:S329Y	ENSP00000282478:S329Y	S	+	2	0	DSPP	88753348	0.000000	0.05858	0.000000	0.03702	0.196000	0.23810	-0.121000	0.10643	0.130000	0.18549	0.557000	0.71058	TCT		0.413	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208	
HERC3	8916	broad.mit.edu	37	4	89625706	89625706	+	Silent	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr4:89625706A>G	ENST00000402738.1	+	25	3128	c.2889A>G	c.(2887-2889)aaA>aaG	p.K963K	HERC3_ENST00000543130.1_Silent_p.K407K|HERC3_ENST00000264345.3_Silent_p.K963K	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	963	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.K963K(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		CCACTGTAAAACTATTTTGGG	0.338																																					p.K963K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2889G	4						.						82.0	83.0	83.0					4																	89625706		2203	4300	6503	89844729	SO:0001819	synonymous_variant	8916	exon25			D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"""hect domain and RLD 3"""			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.2889A>G	4.37:g.89625706A>G			89844729	NM_014606	A8K1S5|Q8IXX3	Silent	SNP	ENST00000402738.1	37	CCDS34028.1																																																																																				0.338	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606	
PDLIM5	10611	broad.mit.edu	37	4	95539223	95539223	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr4:95539223T>C	ENST00000317968.4	+	8	1125	c.989T>C	c.(988-990)cTg>cCg	p.L330P	PDLIM5_ENST00000437932.1_Missense_Mutation_p.L221P|PDLIM5_ENST00000380176.3_3'UTR|PDLIM5_ENST00000514743.1_Missense_Mutation_p.L359P|PDLIM5_ENST00000542407.1_Missense_Mutation_p.L208P	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	330					regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)	p.L330P(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		CCCGAGAGCCTGGACAGCCCA	0.552																																					p.L221P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T662C	4						.						50.0	48.0	49.0					4																	95539223		2203	4300	6503	95758246	SO:0001583	missense	10611	exon8			AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.989T>C	4.37:g.95539223T>C	ENSP00000321746:p.Leu330Pro		95758246	NM_001011513	A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Missense_Mutation	SNP	ENST00000317968.4	37	CCDS3641.1	.	.	.	.	.	.	.	.	.	.	t	3.180	-0.168188	0.06461	.	.	ENSG00000163110	ENST00000437932;ENST00000317968;ENST00000503974;ENST00000542407;ENST00000514743	T;T;T;T;T	0.58940	0.5;0.66;0.49;0.3;0.48	5.49	-7.23	0.01480	.	1.044850	0.07556	N	0.916232	T	0.17323	0.0416	N	0.00583	-1.355	0.09310	N	1	B;B;B;B	0.09022	0.0;0.002;0.0;0.0	B;B;B;B	0.06405	0.0;0.002;0.0;0.0	T	0.29458	-1.0011	10	0.15066	T	0.55	.	6.8185	0.23845	0.2073:0.5681:0.1044:0.1202	.	227;359;330;221	E9PBF5;D6RB78;Q96HC4;Q96HC4-4	.;.;PDLI5_HUMAN;.	P	221;330;227;208;359	ENSP00000398469:L221P;ENSP00000321746:L330P;ENSP00000424297:L227P;ENSP00000442187:L208P;ENSP00000424360:L359P	ENSP00000321746:L330P	L	+	2	0	PDLIM5	95758246	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.117000	0.03283	-1.235000	0.02545	-2.410000	0.00221	CTG		0.552	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253586.1		
PLK4	10733	broad.mit.edu	37	4	128814958	128814959	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	GA	GA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr4:128814958_128814959delGA	ENST00000270861.5	+	13	2758_2759	c.2484_2485delGA	c.(2482-2487)acgagafs	p.R829fs	PLK4_ENST00000513090.1_Frame_Shift_Del_p.R797fs|PLK4_ENST00000515069.1_Frame_Shift_Del_p.R751fs|RNU6-583P_ENST00000516012.1_RNA|PLK4_ENST00000507249.1_Frame_Shift_Del_p.R768fs|PLK4_ENST00000514379.1_Frame_Shift_Del_p.R788fs	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	829					centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D830fs*1(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						ATTACCCAACGAGAGAGAGAGC	0.421																																					p.787_788del	Colon(135;508 1718 19061 31832 42879)											.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2361_2362del	4						.																																			129034409	SO:0001589	frameshift_variant	10733	exon13			Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"""serine/threonine kinase 18"", ""polo-like kinase 4 (Drosophila)"""	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.2484_2485delGA	4.37:g.128814966_128814967delGA	ENSP00000270861:p.Arg829fs		129034408	NM_001190801	B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Frame_Shift_Del	DEL	ENST00000270861.5	37	CCDS3735.1																																																																																				0.421	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3		
TKTL2	84076	broad.mit.edu	37	4	164393802	164393802	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr4:164393802C>T	ENST00000280605.3	-	1	1245	c.1085G>A	c.(1084-1086)cGt>cAt	p.R362H		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	362						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.R362H(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CTCTATGAAACGCTCAGGGTG	0.458																																					p.R362H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1085A	4						.						103.0	102.0	103.0					4																	164393802		2203	4300	6503	164613252	SO:0001583	missense	84076	exon1			BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.1085G>A	4.37:g.164393802C>T	ENSP00000280605:p.Arg362His		164613252	NM_032136	A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.128725	0.77549	.	.	ENSG00000151005	ENST00000280605	D	0.93906	-3.31	4.15	4.15	0.48705	Transketolase-like, pyrimidine-binding domain (2);	0.061345	0.64402	D	0.000004	D	0.97461	0.9169	H	0.95294	3.65	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	D	0.98043	1.0383	10	0.72032	D	0.01	-4.2438	14.7349	0.69409	0.0:1.0:0.0:0.0	.	362	Q9H0I9	TKTL2_HUMAN	H	362	ENSP00000280605:R362H	ENSP00000280605:R362H	R	-	2	0	TKTL2	164613252	1.000000	0.71417	0.969000	0.41365	0.890000	0.51754	3.751000	0.55165	2.589000	0.87451	0.655000	0.94253	CGT		0.458	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136	
SLCO6A1	133482	broad.mit.edu	37	5	101794168	101794168	+	Missense_Mutation	SNP	C	C	T	rs201223529		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:101794168C>T	ENST00000506729.1	-	6	1220	c.1049G>A	c.(1048-1050)cGt>cAt	p.R350H	SLCO6A1_ENST00000389019.3_Missense_Mutation_p.R288H|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.R350H			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	350						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.R350H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AAGCTGTTTACGTTTCCTAGC	0.294																																					p.R350H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1049A	5						.	C	HIS/ARG	0,4402		0,0,2201	136.0	134.0	135.0		1049	-3.4	0.0	5		135	1,8597	1.2+/-3.3	0,1,4298	yes	missense	SLCO6A1	NM_173488.3	29	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	benign	350/720	101794168	1,12999	2201	4299	6500	101822067	SO:0001583	missense	133482	exon6			AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1049G>A	5.37:g.101794168C>T	ENSP00000421339:p.Arg350His		101822067	NM_173488	A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	C	4.991	0.183989	0.09495	0.0	1.16E-4	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019	T;T;T	0.81078	-1.45;-1.45;-1.45	4.19	-3.41	0.04839	Major facilitator superfamily domain, general substrate transporter (1);	2.743770	0.00789	N	0.001322	T	0.72526	0.3471	L	0.49455	1.56	0.09310	N	1	P;P	0.52463	0.953;0.922	B;B	0.39805	0.31;0.288	T	0.65529	-0.6146	10	0.45353	T	0.12	.	5.6148	0.17426	0.1611:0.2376:0.0:0.6012	.	288;350	Q86UG4-2;Q86UG4	.;SO6A1_HUMAN	H	350;350;288	ENSP00000421339:R350H;ENSP00000369135:R350H;ENSP00000373671:R288H	ENSP00000369135:R350H	R	-	2	0	SLCO6A1	101822067	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.880000	0.00343	-0.792000	0.04480	-0.345000	0.07892	CGT		0.294	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488	
PAM	5066	broad.mit.edu	37	5	102295711	102295711	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:102295711C>T	ENST00000438793.3	+	12	1508	c.1038C>T	c.(1036-1038)aaC>aaT	p.N346N	PAM_ENST00000348126.2_Silent_p.N346N|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000304400.7_Silent_p.N346N|PAM_ENST00000274392.9_Silent_p.N249N|PAM_ENST00000455264.2_Silent_p.N346N|PAM_ENST00000346918.2_Silent_p.N346N	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	346	Peptidylglycine alpha-hydroxylating monooxygenase. {ECO:0000250}.				central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)	p.N346N(2)		endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	CAGAGGCCAACATTCCAATTC	0.343																																					p.N346N												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1038T	5						.						140.0	130.0	134.0					5																	102295711		2203	4300	6503	102323610	SO:0001819	synonymous_variant	5066	exon12			AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"""peptidyl-alpha-hydroxyglycine alpha-amidating lyase"", ""peptidylglycine alpha-hydroxylating monooxygenase"""	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.1038C>T	5.37:g.102295711C>T			102323610	NM_138822	A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Silent	SNP	ENST00000438793.3	37	CCDS54885.1	.	.	.	.	.	.	.	.	.	.	C	8.686	0.906298	0.17760	.	.	ENSG00000145730	ENST00000379799	.	.	.	5.58	0.12	0.14691	.	.	.	.	.	T	0.55673	0.1935	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47262	-0.9131	4	.	.	.	.	9.1565	0.36996	0.0:0.2989:0.0:0.7011	.	.	.	.	Y	119	.	.	H	+	1	0	PAM	102323610	0.504000	0.26123	0.993000	0.49108	0.963000	0.63663	-0.226000	0.09139	-0.143000	0.11334	-0.691000	0.03719	CAT		0.343	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250640.2	NM_000919	
TSLP	85480	broad.mit.edu	37	5	110409278	110409278	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:110409278G>T	ENST00000344895.3	+	3	485	c.286G>T	c.(286-288)Gaa>Taa	p.E96*	TSLP_ENST00000420978.2_Nonsense_Mutation_p.E96*|TSLP_ENST00000379706.4_5'UTR	NM_033035.4	NP_149024.1	Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin	96						extracellular space (GO:0005615)		p.E96*(1)		breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		GCTCGCCAAAGAAATGTTCGC	0.522																																					p.E96X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G286T	5						.						143.0	150.0	147.0					5																	110409278		2202	4300	6502	110437177	SO:0001587	stop_gained	85480	exon3			BC040592	CCDS4101.1	5q22.1	2007-08-24			ENSG00000145777	ENSG00000145777			30743	protein-coding gene	gene with protein product		607003				11418668, 11480573	Standard	NM_033035		Approved		uc003kpb.2	Q969D9	OTTHUMG00000128791	ENST00000344895.3:c.286G>T	5.37:g.110409278G>T	ENSP00000339804:p.Glu96*		110437177	NM_033035	Q8IW99	Nonsense_Mutation	SNP	ENST00000344895.3	37	CCDS4101.1	.	.	.	.	.	.	.	.	.	.	G	47	13.494022	0.99745	.	.	ENSG00000145777	ENST00000420978;ENST00000344895	.	.	.	4.93	0.0754	0.14399	.	1.399250	0.04838	N	0.440053	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-3.4937	3.7658	0.08622	0.3711:0.0:0.4641:0.1647	.	.	.	.	X	96	.	ENSP00000339804:E96X	E	+	1	0	TSLP	110437177	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.322000	0.19576	-0.099000	0.12263	0.655000	0.94253	GAA		0.522	TSLP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250717.1	NM_033035	
CCDC112	153733	broad.mit.edu	37	5	114610936	114610936	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:114610936C>T	ENST00000512261.1	-	7	1062	c.646G>A	c.(646-648)Gct>Act	p.A216T	CCDC112_ENST00000503027.1_5'Flank|CCDC112_ENST00000506442.1_Missense_Mutation_p.A216T|CCDC112_ENST00000395557.4_Missense_Mutation_p.A216T|CCDC112_ENST00000379611.5_Missense_Mutation_p.A299T			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	216								p.A299T(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)		TCTTCTAGAGCCAGAAACTTT	0.328																																					p.A299T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G895A	5						.						45.0	49.0	47.0					5																	114610936		2202	4300	6502	114638835	SO:0001583	missense	153733	exon6			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.646G>A	5.37:g.114610936C>T	ENSP00000423712:p.Ala216Thr		114638835	NM_001040440	Q6A334	Missense_Mutation	SNP	ENST00000512261.1	37	CCDS4117.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.332396	0.24167	.	.	ENSG00000164221	ENST00000379611;ENST00000512261;ENST00000506442;ENST00000395557	T;T;T;T	0.21543	2.0;2.28;2.26;2.28	6.17	0.951	0.19579	.	0.777445	0.12812	N	0.437110	T	0.08582	0.0213	N	0.14661	0.345	0.20403	N	0.999907	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.003;0.003	T	0.36237	-0.9756	10	0.13470	T	0.59	-2.9056	1.9123	0.03290	0.2975:0.3954:0.097:0.2101	.	216;299;216	D6RF76;Q8NEF3-2;Q8NEF3	.;.;CC112_HUMAN	T	299;216;216;216	ENSP00000368931:A299T;ENSP00000423712:A216T;ENSP00000424876:A216T;ENSP00000378925:A216T	ENSP00000368931:A299T	A	-	1	0	CCDC112	114638835	0.411000	0.25384	0.995000	0.50966	0.968000	0.65278	0.224000	0.17738	0.452000	0.26830	0.655000	0.94253	GCT		0.328	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370999.1	NM_152549	
ZNF474	133923	broad.mit.edu	37	5	121487761	121487761	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:121487761C>T	ENST00000296600.4	+	2	459	c.76C>T	c.(76-78)Ctt>Ttt	p.L26F	ZNF474_ENST00000514925.1_Intron|CTC-441N14.2_ENST00000504829.1_RNA|CTC-441N14.1_ENST00000505209.1_RNA	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	26							metal ion binding (GO:0046872)	p.L26F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		ACCCACTTTCCTTATCAACCA	0.378																																					p.L26F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C76T	5						.						86.0	91.0	89.0					5																	121487761		2203	4300	6503	121515660	SO:0001583	missense	133923	exon2			AK057483	CCDS4130.1	5q23.2	2008-02-05			ENSG00000164185	ENSG00000164185		"""Zinc fingers, C2H2-type"""	23245	protein-coding gene	gene with protein product							Standard	NM_207317		Approved	4933409D10Rik, FLJ32921	uc003ksv.3	Q6S9Z5	OTTHUMG00000128911	ENST00000296600.4:c.76C>T	5.37:g.121487761C>T	ENSP00000296600:p.Leu26Phe		121515660	NM_207317	A8K4M0|Q96M07	Missense_Mutation	SNP	ENST00000296600.4	37	CCDS4130.1	.	.	.	.	.	.	.	.	.	.	C	5.381	0.255495	0.10185	.	.	ENSG00000164185	ENST00000296600;ENST00000504912;ENST00000505843	T	0.49139	0.79	4.2	1.07	0.20283	.	1.451040	0.05053	N	0.478453	T	0.31295	0.0792	N	0.19112	0.55	0.27233	N	0.959349	B	0.16166	0.016	B	0.10450	0.005	T	0.24190	-1.0167	10	0.42905	T	0.14	.	3.6446	0.08180	0.2037:0.4853:0.0:0.311	.	26	Q6S9Z5	ZN474_HUMAN	F	26	ENSP00000296600:L26F	ENSP00000296600:L26F	L	+	1	0	ZNF474	121515660	0.874000	0.30092	0.994000	0.49952	0.904000	0.53231	0.356000	0.20181	0.208000	0.20626	0.655000	0.94253	CTT		0.378	ZNF474-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250883.2	NM_207317	
SNCAIP	9627	broad.mit.edu	37	5	121759110	121759110	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:121759110C>T	ENST00000261368.8	+	4	940	c.678C>T	c.(676-678)caC>caT	p.H226H	SNCAIP_ENST00000503116.2_Silent_p.H273H|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000379536.2_Silent_p.H226H|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000261367.7_Silent_p.H273H|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379533.2_Silent_p.H273H	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	226					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)	p.H273H(2)|p.H226H(1)		NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CTGTCATCCACGACCAGCACA	0.468																																					p.H226H												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C678T	5						.						74.0	75.0	75.0					5																	121759110		2203	4300	6503	121787009	SO:0001819	synonymous_variant	9627	exon4			AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.678C>T	5.37:g.121759110C>T			121787009	NM_005460	D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Silent	SNP	ENST00000261368.8	37	CCDS4131.1																																																																																				0.468	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1		
DNAH5	1767	broad.mit.edu	37	5	13737549	13737549	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:13737549C>A	ENST00000265104.4	-	66	11371	c.11267G>T	c.(11266-11268)aGg>aTg	p.R3756M		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3756	AAA 5. {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.R3756M(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)					TTCCTTCATCCTTCTTTTGTT	0.373									Kartagener syndrome																												p.R3756M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G11267T	5						.						176.0	157.0	163.0					5																	13737549		2203	4300	6503	13790549	SO:0001583	missense	1767	exon66	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.11267G>T	5.37:g.13737549C>A	ENSP00000265104:p.Arg3756Met		13790549	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.482250	0.44147	.	.	ENSG00000039139	ENST00000265104	T	0.70282	-0.47	5.68	-1.03	0.10102	.	0.252823	0.44902	D	0.000404	T	0.65460	0.2693	L	0.35288	1.05	0.31157	N	0.704764	B	0.33266	0.404	P	0.45660	0.489	T	0.68945	-0.5275	10	0.72032	D	0.01	.	11.0288	0.47761	0.0:0.385:0.0:0.615	.	3756	Q8TE73	DYH5_HUMAN	M	3756	ENSP00000265104:R3756M	ENSP00000265104:R3756M	R	-	2	0	DNAH5	13790549	0.020000	0.18652	0.097000	0.21041	0.668000	0.39293	-0.052000	0.11865	-0.101000	0.12219	-0.136000	0.14681	AGG		0.373	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
AFF4	27125	broad.mit.edu	37	5	132232501	132232501	+	Silent	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:132232501G>A	ENST00000265343.5	-	11	2200	c.1821C>T	c.(1819-1821)ggC>ggT	p.G607G	AFF4_ENST00000378595.3_Silent_p.G607G	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	607					spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G607G(1)	SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTTTCCTTGAGCCTTTGGTGG	0.463																																					p.G607G	Ovarian(126;889 1733 2942 10745 11605)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1821T	5						.						56.0	56.0	56.0					5																	132232501		2203	4300	6503	132260400	SO:0001819	synonymous_variant	27125	exon11			AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.1821C>T	5.37:g.132232501G>A			132260400	NM_014423	B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Silent	SNP	ENST00000265343.5	37	CCDS4164.1																																																																																				0.463	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423	
DNAH5	1767	broad.mit.edu	37	5	13916493	13916493	+	Silent	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:13916493A>G	ENST00000265104.4	-	9	1265	c.1161T>C	c.(1159-1161)taT>taC	p.Y387Y		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	387	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.Y387Y(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)					CAGAGGTATTATAGTAATGAG	0.318									Kartagener syndrome																												p.Y387Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1161C	5						.						79.0	81.0	81.0					5																	13916493		2201	4290	6491	13969493	SO:0001819	synonymous_variant	1767	exon9	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.1161T>C	5.37:g.13916493A>G			13969493	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	CCDS3882.1																																																																																				0.318	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
CTNNA1	1495	broad.mit.edu	37	5	138163400	138163400	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:138163400T>C	ENST00000302763.7	+	7	1145	c.1055T>C	c.(1054-1056)aTg>aCg	p.M352T	CTNNA1_ENST00000518825.1_Missense_Mutation_p.M352T|CTNNA1_ENST00000355078.5_Missense_Mutation_p.M249T	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	352	Interaction with alpha-actinin.				adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)	p.M352T(1)		NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TCGGAGTACATGGGCAATGTG	0.468																																					p.M352T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1055C	5						.						107.0	95.0	99.0					5																	138163400		2203	4300	6503	138191299	SO:0001583	missense	1495	exon7			D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.1055T>C	5.37:g.138163400T>C	ENSP00000304669:p.Met352Thr		138191299	NM_001903	Q12795|Q8N1C0	Missense_Mutation	SNP	ENST00000302763.7	37	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	T	16.38	3.107886	0.56291	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825	T;T;T	0.36699	1.24;1.24;1.24	5.74	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.32704	0.0838	L	0.50333	1.59	0.80722	D	1	B;P;B	0.39216	0.338;0.664;0.145	B;B;B	0.40329	0.264;0.326;0.123	T	0.04153	-1.0973	10	0.15952	T	0.53	-23.0618	11.3104	0.49360	0.0:0.0719:0.0:0.9281	.	352;229;352	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	T	249;352;352;337;352	ENSP00000347190:M249T;ENSP00000304669:M352T;ENSP00000427821:M352T	ENSP00000304669:M352T	M	+	2	0	CTNNA1	138191299	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.997000	0.88414	1.005000	0.39183	0.460000	0.39030	ATG		0.468	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903	
TMCO6	55374	broad.mit.edu	37	5	140021524	140021524	+	Silent	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:140021524G>A	ENST00000394671.3	+	4	485	c.384G>A	c.(382-384)gcG>gcA	p.A128A	TMCO6_ENST00000537378.1_Intron|TMCO6_ENST00000511410.1_3'UTR|TMCO6_ENST00000252100.6_Silent_p.A128A|NDUFA2_ENST00000510680.1_Intron	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	128					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)	p.A128A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTTGAGGCGGCTCGGTGCC	0.622																																					p.A128A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G384A	5						.						48.0	53.0	51.0					5																	140021524		2046	4188	6234	140001708	SO:0001819	synonymous_variant	55374	exon4			BC001910	CCDS4233.2, CCDS75320.1	5q31.3	2008-11-06			ENSG00000113119	ENSG00000113119			28814	protein-coding gene	gene with protein product						12477932	Standard	XM_005268476		Approved	FLJ39769, PRO1580	uc003lgl.3	Q96DC7	OTTHUMG00000129497	ENST00000394671.3:c.384G>A	5.37:g.140021524G>A			140001708	NM_018502	Q9BUU0|Q9P198	Silent	SNP	ENST00000394671.3	37	CCDS4233.2																																																																																				0.622	TMCO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251666.2	NM_018502	
PCDHA4	56144	broad.mit.edu	37	5	140188828	140188828	+	Missense_Mutation	SNP	G	G	A	rs553716577		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:140188828G>A	ENST00000530339.1	+	1	2056	c.2056G>A	c.(2056-2058)Gct>Act	p.A686T	PCDHA4_ENST00000512229.2_Missense_Mutation_p.A686T|PCDHA4_ENST00000356878.4_Missense_Mutation_p.A686T|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	686					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.A686T(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTGGTGGGCGCTGTGGGTCC	0.642																																					p.A686T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2056A	5						.						60.0	57.0	58.0					5																	140188828		2203	4300	6503	140169012	SO:0001583	missense	56144	exon1			AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.2056G>A	5.37:g.140188828G>A	ENSP00000435300:p.Ala686Thr		140169012	NM_031500	O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	g	10.96	1.498542	0.26861	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.53423	0.69;0.62;0.67	3.93	-0.376	0.12505	.	0.988162	0.08196	U	0.983025	T	0.43964	0.1271	M	0.73962	2.25	0.09310	N	1	B;B;B	0.15930	0.013;0.015;0.012	B;B;B	0.21708	0.036;0.005;0.006	T	0.39742	-0.9599	10	0.32370	T	0.25	.	3.8281	0.08863	0.0769:0.2583:0.3996:0.2652	.	686;686;686	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	T	686	ENSP00000423470:A686T;ENSP00000349344:A686T;ENSP00000435300:A686T	ENSP00000349344:A686T	A	+	1	0	PCDHA4	140169012	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.502000	0.06390	-0.359000	0.08150	0.484000	0.47621	GCT		0.642	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907	
PCDHB7	56129	broad.mit.edu	37	5	140552500	140552500	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:140552500C>T	ENST00000231137.3	+	1	258	c.84C>T	c.(82-84)gcC>gcT	p.A28A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	28					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A28A(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCTGGCGCCGAACCGCTTC	0.517																																					p.A28A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C84T	5						.						169.0	149.0	156.0					5																	140552500		2203	4300	6503	140532684	SO:0001819	synonymous_variant	56129	exon1			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.84C>T	5.37:g.140552500C>T			140532684	NM_018940	A1L3Y8	Silent	SNP	ENST00000231137.3	37	CCDS4249.1																																																																																				0.517	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940	
PCDHB11	56125	broad.mit.edu	37	5	140581573	140581573	+	Silent	SNP	C	C	T	rs199864160		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:140581573C>T	ENST00000354757.3	+	1	2226	c.2226C>T	c.(2224-2226)acC>acT	p.T742T	PCDHB11_ENST00000536699.1_Silent_p.T377T	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	742					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.T742T(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAGCGGCACCGGGACCCTTT	0.602																																					p.T742T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2226T	5						.						110.0	123.0	119.0					5																	140581573		2203	4300	6503	140561757	SO:0001819	synonymous_variant	56125	exon1			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.2226C>T	5.37:g.140581573C>T			140561757	NM_018931	B4DSF7|Q2M223	Silent	SNP	ENST00000354757.3	37	CCDS4253.1																																																																																				0.602	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931	
PCDHGA1	56114	broad.mit.edu	37	5	140712477	140712477	+	Silent	SNP	C	C	T	rs577415293		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:140712477C>T	ENST00000517417.1	+	1	2226	c.2226C>T	c.(2224-2226)ggC>ggT	p.G742G	PCDHGA1_ENST00000378105.3_Silent_p.G742G	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	742					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G742G(1)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTTGTGGGCGTGGACGGGG	0.637													c|||	1	0.000199681	0.0	0.0	5008	,	,		15807	0.001		0.0	False		,,,				2504	0.0				p.G742G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2226T	5						.						71.0	75.0	74.0					5																	140712477		2203	4300	6503	140692661	SO:0001819	synonymous_variant	56114	exon1			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2226C>T	5.37:g.140712477C>T			140692661	NM_031993	Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	37	CCDS54922.1																																																																																				0.637	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912	
PCDHGC3	5098	broad.mit.edu	37	5	140857013	140857013	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:140857013C>T	ENST00000308177.3	+	1	1434	c.1330C>T	c.(1330-1332)Cgt>Tgt	p.R444C	PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	444	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R444C(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACAATAGTGCGTGTTCAAGT	0.522																																					p.R444C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1330T	5						.						124.0	124.0	124.0					5																	140857013		2203	4300	6503	140837197	SO:0001583	missense	5098	exon1			AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.1330C>T	5.37:g.140857013C>T	ENSP00000312070:p.Arg444Cys		140837197	NM_032402	O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP	ENST00000308177.3	37	CCDS4261.1	.	.	.	.	.	.	.	.	.	.	C	9.017	0.984037	0.18889	.	.	ENSG00000240184	ENST00000308177	T	0.54279	0.58	5.19	0.914	0.19360	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.48095	0.1481	M	0.62209	1.925	0.09310	N	1	P;D	0.57257	0.941;0.979	B;B	0.43360	0.417;0.409	T	0.37384	-0.9708	9	0.38643	T	0.18	.	8.9568	0.35823	0.4851:0.4446:0.0:0.0703	.	444;444	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	C	444	ENSP00000312070:R444C	ENSP00000312070:R444C	R	+	1	0	PCDHGC3	140837197	0.000000	0.05858	0.134000	0.22075	0.431000	0.31685	0.205000	0.17356	0.362000	0.24319	0.655000	0.94253	CGT		0.522	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588	
PCDH1	5097	broad.mit.edu	37	5	141244520	141244520	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:141244520T>G	ENST00000394536.3	-	3	1515	c.1376A>C	c.(1375-1377)cAg>cCg	p.Q459P	PCDH1_ENST00000287008.3_Missense_Mutation_p.Q459P|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000456271.1_Missense_Mutation_p.Q447P|PCDH1_ENST00000536585.1_Missense_Mutation_p.Q437P|PCDH1_ENST00000511044.1_5'UTR	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	459	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q459P(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GGTGGTAGTCTGCAGGAAATA	0.557																																					p.Q459P	Ovarian(132;1609 1739 4190 14731 45037)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1376C	5						.						204.0	193.0	197.0					5																	141244520		2203	4300	6503	141224704	SO:0001583	missense	5097	exon3			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.1376A>C	5.37:g.141244520T>G	ENSP00000378043:p.Gln459Pro		141224704	NM_032420	Q8IUP2	Missense_Mutation	SNP	ENST00000394536.3	37	CCDS43375.1	.	.	.	.	.	.	.	.	.	.	t	17.27	3.346189	0.61073	.	.	ENSG00000156453	ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T	0.52295	0.67;4.66;4.66;4.66;4.66	5.88	5.88	0.94601	Cadherin (4);Cadherin-like (1);	0.000000	0.49305	D	0.000159	T	0.63803	0.2542	L	0.53249	1.67	0.80722	D	1	D;D	0.76494	0.999;0.995	D;D	0.72982	0.979;0.915	T	0.66089	-0.6010	10	0.72032	D	0.01	.	14.2672	0.66126	0.0:0.0:0.0:1.0	.	459;459	Q08174;Q08174-2	PCDH1_HUMAN;.	P	459;459;447;470;437	ENSP00000287008:Q459P;ENSP00000378043:Q459P;ENSP00000403497:Q447P;ENSP00000350122:Q470P;ENSP00000438825:Q437P	ENSP00000287008:Q459P	Q	-	2	0	PCDH1	141224704	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	8.040000	0.89188	2.263000	0.75096	0.524000	0.50904	CAG		0.557	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420	
GPR151	134391	broad.mit.edu	37	5	145894754	145894754	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:145894754A>G	ENST00000311104.2	-	1	999	c.923T>C	c.(922-924)gTg>gCg	p.V308A		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	308						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V308A(1)		endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCCGACATCACAAGAAAAAT	0.478																																					p.V308A	Pancreas(78;420 1386 18535 37114 49710)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T923C	5						.						70.0	72.0	72.0					5																	145894754		2203	4300	6503	145874947	SO:0001583	missense	134391	exon1			AY255557	CCDS34266.1	5q32	2012-08-21						"""GPCR / Class A : Orphans"""	23624	protein-coding gene	gene with protein product	"""galanin receptor 4"""					12679517	Standard	NM_194251		Approved	PGR7, GALR4	uc003lod.1	Q8TDV0		ENST00000311104.2:c.923T>C	5.37:g.145894754A>G	ENSP00000308733:p.Val308Ala		145874947	NM_194251	Q86SN8|Q8NGV2	Missense_Mutation	SNP	ENST00000311104.2	37	CCDS34266.1	.	.	.	.	.	.	.	.	.	.	A	7.860	0.725795	0.15439	.	.	ENSG00000173250	ENST00000311104	T	0.37752	1.18	6.17	3.78	0.43462	.	0.640739	0.15978	N	0.235429	T	0.28400	0.0702	L	0.38838	1.175	0.23180	N	0.998162	B	0.06786	0.001	B	0.04013	0.001	T	0.16689	-1.0394	10	0.44086	T	0.13	.	10.1728	0.42920	0.8612:0.0:0.1388:0.0	.	308	Q8TDV0	GP151_HUMAN	A	308	ENSP00000308733:V308A	ENSP00000308733:V308A	V	-	2	0	GPR151	145874947	0.150000	0.22732	0.969000	0.41365	0.979000	0.70002	2.948000	0.49066	1.155000	0.42497	0.533000	0.62120	GTG		0.478	GPR151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373457.1	NM_194251	
PDGFRB	5159	broad.mit.edu	37	5	149512344	149512344	+	Missense_Mutation	SNP	C	C	T	rs368602685		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:149512344C>T	ENST00000261799.4	-	7	1565	c.1096G>A	c.(1096-1098)Gcc>Acc	p.A366T		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	366	Ig-like C2-type 4.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)	p.A366T(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTGGACAGGGCGATTTCGCCA	0.622			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																p.A366T			Dom	yes		5	5q31-q32	5159	"""platelet-derived growth factor receptor, beta polypeptide"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1096A	5						.	C	THR/ALA	0,4404		0,0,2202	38.0	34.0	35.0		1096	1.3	0.0	5		35	1,8599	1.2+/-3.3	0,1,4299	no	missense	PDGFRB	NM_002609.3	58	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	366/1107	149512344	1,13003	2202	4300	6502	149492537	SO:0001583	missense	5159	exon7			M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.1096G>A	5.37:g.149512344C>T	ENSP00000261799:p.Ala366Thr		149492537	NM_002609	B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	C	0.449	-0.894569	0.02491	0.0	1.16E-4	ENSG00000113721	ENST00000261799;ENST00000544453	T	0.28069	1.63	5.7	1.26	0.21427	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.695503	0.13016	N	0.420456	T	0.05960	0.0155	N	0.00237	-1.79	0.09310	N	1	B;B	0.12630	0.004;0.006	B;B	0.10450	0.004;0.005	T	0.38972	-0.9636	10	0.07990	T	0.79	.	5.2894	0.15719	0.4396:0.3413:0.0:0.2191	.	366;366	A8KAM8;P09619	.;PGFRB_HUMAN	T	366;36	ENSP00000261799:A366T	ENSP00000261799:A366T	A	-	1	0	PDGFRB	149492537	0.677000	0.27577	0.000000	0.03702	0.292000	0.27327	-0.296000	0.08287	0.273000	0.22049	0.655000	0.94253	GCC		0.622	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609	
PDGFRB	5159	broad.mit.edu	37	5	149515305	149515305	+	Silent	SNP	C	C	T	rs540479594		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:149515305C>T	ENST00000261799.4	-	3	646	c.177G>A	c.(175-177)ccG>ccA	p.P59P		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	59	Ig-like C2-type 1.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)	p.P59P(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCCACACCACCGGAGCTGAAC	0.622			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								C|||	1	0.000199681	0.0008	0.0	5008	,	,		18640	0.0		0.0	False		,,,				2504	0.0				p.P59P			Dom	yes		5	5q31-q32	5159	"""platelet-derived growth factor receptor, beta polypeptide"""		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G177A	5						.						53.0	46.0	48.0					5																	149515305		2203	4300	6503	149495498	SO:0001819	synonymous_variant	5159	exon3			M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.177G>A	5.37:g.149515305C>T			149495498	NM_002609	B5A957|Q8N5L4	Silent	SNP	ENST00000261799.4	37	CCDS4303.1																																																																																				0.622	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609	
FAT2	2196	broad.mit.edu	37	5	150925240	150925240	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:150925240A>T	ENST00000261800.5	-	9	5460	c.5448T>A	c.(5446-5448)gaT>gaA	p.D1816E		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1816	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D1816E(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCATGCTGGGATCAATTTTGA	0.433																																					p.D1816E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T5448A	5						.						51.0	54.0	53.0					5																	150925240		2202	4300	6502	150905433	SO:0001583	missense	2196	exon9			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.5448T>A	5.37:g.150925240A>T	ENSP00000261800:p.Asp1816Glu		150905433	NM_001447	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	A	18.12	3.553865	0.65425	.	.	ENSG00000086570	ENST00000261800	T	0.64260	-0.09	5.25	-4.62	0.03370	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000014	T	0.80518	0.4638	H	0.94734	3.575	0.46678	D	0.99915	D	0.89917	1.0	D	0.87578	0.998	T	0.82147	-0.0601	10	0.56958	D	0.05	.	13.0565	0.58984	0.4544:0.0:0.5456:0.0	.	1816	Q9NYQ8	FAT2_HUMAN	E	1816	ENSP00000261800:D1816E	ENSP00000261800:D1816E	D	-	3	2	FAT2	150905433	1.000000	0.71417	0.692000	0.30179	0.976000	0.68499	0.693000	0.25497	-0.909000	0.03852	0.383000	0.25322	GAT		0.433	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
FAT2	2196	broad.mit.edu	37	5	150945624	150945624	+	Missense_Mutation	SNP	C	C	T	rs538842194		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:150945624C>T	ENST00000261800.5	-	1	2881	c.2869G>A	c.(2869-2871)Gca>Aca	p.A957T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	957	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A957T(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTTCACCTGCGGGGCCCAGG	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		19171	0.0		0.001	False		,,,				2504	0.0				p.A957T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2869A	5						.						51.0	54.0	53.0					5																	150945624		2203	4300	6503	150925817	SO:0001583	missense	2196	exon1			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.2869G>A	5.37:g.150945624C>T	ENSP00000261800:p.Ala957Thr		150925817	NM_001447	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747367	0.69533	.	.	ENSG00000086570	ENST00000261800	T	0.52057	0.68	5.39	4.51	0.55191	Cadherin (4);Cadherin-like (1);	0.091204	0.47455	D	0.000226	T	0.50343	0.1610	L	0.35854	1.095	0.31899	N	0.616182	D	0.56287	0.975	P	0.55260	0.772	T	0.58053	-0.7704	10	0.36615	T	0.2	.	13.0868	0.59146	0.2921:0.7079:0.0:0.0	.	957	Q9NYQ8	FAT2_HUMAN	T	957	ENSP00000261800:A957T	ENSP00000261800:A957T	A	-	1	0	FAT2	150925817	0.914000	0.31030	0.983000	0.44433	0.919000	0.55068	3.241000	0.51376	1.228000	0.43614	0.561000	0.74099	GCA		0.582	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
ATP10B	23120	broad.mit.edu	37	5	160033790	160033790	+	Missense_Mutation	SNP	C	C	T	rs540605471		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:160033790C>T	ENST00000327245.5	-	19	3988	c.3142G>A	c.(3142-3144)Gtc>Atc	p.V1048I		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1048					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.V1048I(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGGTCATGACGCGCAACTTG	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		21914	0.0		0.0	False		,,,				2504	0.001				p.V1048I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3142A	5						.						86.0	87.0	87.0					5																	160033790		2109	4239	6348	159966368	SO:0001583	missense	23120	exon19			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.3142G>A	5.37:g.160033790C>T	ENSP00000313600:p.Val1048Ile		159966368	NM_025153	Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539674	0.85917	.	.	ENSG00000118322	ENST00000327245	D	0.88124	-2.34	4.98	4.98	0.66077	HAD-like domain (2);	0.140369	0.47455	D	0.000237	D	0.88658	0.6496	L	0.55834	1.745	0.58432	D	0.999992	D	0.55385	0.971	P	0.51453	0.67	D	0.88133	0.2839	9	.	.	.	.	17.2717	0.87104	0.0:1.0:0.0:0.0	.	1048	O94823	AT10B_HUMAN	I	1048	ENSP00000313600:V1048I	.	V	-	1	0	ATP10B	159966368	1.000000	0.71417	0.992000	0.48379	0.444000	0.32077	5.982000	0.70532	2.309000	0.77851	0.563000	0.77884	GTC		0.547	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153	
GABRG2	2566	broad.mit.edu	37	5	161569246	161569246	+	Silent	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:161569246C>A	ENST00000361925.4	+	7	1066	c.846C>A	c.(844-846)ccC>ccA	p.P282P	GABRG2_ENST00000393933.4_Silent_p.P187P|GABRG2_ENST00000414552.2_Silent_p.P322P|GABRG2_ENST00000356592.3_Silent_p.P282P			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	282					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.P282P(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCTATATCCCCTGCACACTCA	0.443																																					p.P282P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C846A	5						.						289.0	245.0	260.0					5																	161569246		2203	4300	6503	161501824	SO:0001819	synonymous_variant	2566	exon7				CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.846C>A	5.37:g.161569246C>A			161501824	NM_198904	F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Silent	SNP	ENST00000361925.4	37	CCDS4358.1																																																																																				0.443	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1		
TENM2	57451	broad.mit.edu	37	5	167653202	167653202	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:167653202C>T	ENST00000518659.1	+	24	5257	c.5218C>T	c.(5218-5220)Cgt>Tgt	p.R1740C	TENM2_ENST00000519204.1_Missense_Mutation_p.R1619C|TENM2_ENST00000545108.1_Missense_Mutation_p.R1739C|TENM2_ENST00000520394.1_Missense_Mutation_p.R1501C|TENM2_ENST00000403607.2_Missense_Mutation_p.R1564C	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1740					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.R1573C(1)									GAACTCCAACCGTGATGATGA	0.547																																					p.R1731C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5191T	5						.						64.0	65.0	65.0					5																	167653202		2009	4173	6182	167585780	SO:0001583	missense	57451	exon24			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.5218C>T	5.37:g.167653202C>T	ENSP00000429430:p.Arg1740Cys		167585780	NM_001122679	Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37		.	.	.	.	.	.	.	.	.	.	C	17.81	3.481738	0.63849	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90676	-2.24;-2.23;-2.34;-2.69;-2.71	5.38	4.49	0.54785	.	0.000000	0.85682	D	0.000000	D	0.94951	0.8367	M	0.78049	2.395	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.988;0.973;0.995	D	0.95343	0.8440	10	0.72032	D	0.01	.	15.2981	0.73925	0.1413:0.8587:0.0:0.0	.	1739;1740;1501	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	C	1740;1739;1619;1501;1564	ENSP00000429430:R1740C;ENSP00000438635:R1739C;ENSP00000428964:R1619C;ENSP00000427874:R1501C;ENSP00000384905:R1564C	ENSP00000384905:R1564C	R	+	1	0	ODZ2	167585780	1.000000	0.71417	0.966000	0.40874	0.733000	0.41908	2.049000	0.41288	1.251000	0.43983	0.555000	0.69702	CGT		0.547	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679	
DOCK2	1794	broad.mit.edu	37	5	169111219	169111219	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:169111219A>G	ENST00000256935.8	+	8	706	c.626A>G	c.(625-627)tAt>tGt	p.Y209C		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	209					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.Y209C(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGCCAGATTATGCAATGTAT	0.453																																					p.Y209C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A626G	5						.						168.0	161.0	164.0					5																	169111219		2203	4300	6503	169043797	SO:0001583	missense	1794	exon8			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.626A>G	5.37:g.169111219A>G	ENSP00000256935:p.Tyr209Cys		169043797	NM_004946	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	A	16.17	3.048461	0.55110	.	.	ENSG00000134516	ENST00000256935	T	0.46451	0.87	5.43	5.43	0.79202	.	0.173070	0.51477	D	0.000094	T	0.40522	0.1120	N	0.22421	0.69	0.80722	D	1	D	0.65815	0.995	P	0.51193	0.662	T	0.23084	-1.0198	10	0.38643	T	0.18	.	15.4945	0.75637	1.0:0.0:0.0:0.0	.	209	Q92608	DOCK2_HUMAN	C	209	ENSP00000256935:Y209C	ENSP00000256935:Y209C	Y	+	2	0	DOCK2	169043797	1.000000	0.71417	0.993000	0.49108	0.937000	0.57800	5.375000	0.66173	2.058000	0.61347	0.533000	0.62120	TAT		0.453	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	
DOCK2	1794	broad.mit.edu	37	5	169230162	169230162	+	Silent	SNP	C	C	T	rs141649591		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:169230162C>T	ENST00000256935.8	+	26	2735	c.2655C>T	c.(2653-2655)tgC>tgT	p.C885C	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Silent_p.C377C	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	885					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.C885C(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAAGTACTGCGTTGAATTGC	0.507													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19267	0.0		0.0	False		,,,				2504	0.0				p.C885C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2655T	5						.	C		4,4402	8.1+/-20.4	0,4,2199	151.0	127.0	135.0		2655	-6.5	0.1	5	dbSNP_134	135	0,8600		0,0,4300	no	coding-synonymous	DOCK2	NM_004946.2		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		885/1831	169230162	4,13002	2203	4300	6503	169162740	SO:0001819	synonymous_variant	1794	exon26			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.2655C>T	5.37:g.169230162C>T			169162740	NM_004946	Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	CCDS4371.1																																																																																				0.507	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	
KCNIP1	30820	broad.mit.edu	37	5	170145861	170145861	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:170145861A>G	ENST00000411494.1	+	3	194	c.194A>G	c.(193-195)cAg>cGg	p.Q65R	KCNIP1_ENST00000328939.4_Missense_Mutation_p.Q54R|KCNIP1_ENST00000390656.4_Missense_Mutation_p.Q54R|KCNIP1_ENST00000520740.1_Missense_Mutation_p.Q26R|KCNIP1_ENST00000434108.1_Missense_Mutation_p.Q54R|KCNIP1_ENST00000377360.4_Missense_Mutation_p.Q63R			Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	65	EF-hand 1; degenerate. {ECO:0000255|PROSITE-ProRule:PRU00448}.				detection of calcium ion (GO:0005513)|positive regulation of action potential (GO:0045760)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|potassium channel complex (GO:0034705)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|voltage-gated ion channel activity (GO:0005244)	p.Q65R(1)		autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGGAGCTGCAGGTCCTTTAT	0.572																																					p.Q63R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A188G	5						.						64.0	62.0	63.0					5																	170145861		2203	4300	6503	170078439	SO:0001583	missense	30820	exon2			AF199597	CCDS34285.1, CCDS34286.1, CCDS4374.1, CCDS64312.1, CCDS64313.1	5q35	2013-01-10			ENSG00000182132	ENSG00000182132		"""EF-hand domain containing"""	15521	protein-coding gene	gene with protein product		604660				10676964	Standard	NM_001278339		Approved	KCHIP1	uc003map.3	Q9NZI2	OTTHUMG00000130442	ENST00000411494.1:c.194A>G	5.37:g.170145861A>G	ENSP00000395323:p.Gln65Arg		170078439	NM_001034838	B7Z7B4|Q3YAD0|Q3YAD1|Q3YAD2|Q3YAD3|Q5U822	Missense_Mutation	SNP	ENST00000411494.1	37	CCDS34286.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.536296	0.85812	.	.	ENSG00000182132	ENST00000377360;ENST00000328939;ENST00000390656;ENST00000520740;ENST00000434108;ENST00000411494	T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6	5.59	5.59	0.84812	EF-hand-like domain (1);	0.049339	0.85682	D	0.000000	T	0.48554	0.1506	M	0.70595	2.14	0.80722	D	1	D;P;B;B	0.58620	0.983;0.89;0.018;0.006	P;B;B;B	0.57009	0.811;0.411;0.005;0.008	T	0.47674	-0.9099	9	.	.	.	.	13.7125	0.62675	1.0:0.0:0.0:0.0	.	54;54;65;63	Q3YAD0;Q3YAD2;Q9NZI2;Q3YAD3	.;.;KCIP1_HUMAN;.	R	63;54;54;26;54;65	ENSP00000366577:Q63R;ENSP00000329686:Q54R;ENSP00000375071:Q54R;ENSP00000431102:Q26R;ENSP00000414886:Q54R;ENSP00000395323:Q65R	.	Q	+	2	0	KCNIP1	170078439	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	8.904000	0.92590	2.117000	0.64856	0.533000	0.62120	CAG		0.572	KCNIP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000371760.1		
GPRIN1	114787	broad.mit.edu	37	5	176025076	176025076	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:176025076G>A	ENST00000303991.4	-	2	1937	c.1760C>T	c.(1759-1761)tCg>tTg	p.S587L		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	587					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)		p.S587L(1)		NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACCTTCCCCGAGGGCACCGG	0.562																																					p.S587L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1760T	5						.						79.0	82.0	81.0					5																	176025076		2203	4300	6503	175957682	SO:0001583	missense	114787	exon2			AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.1760C>T	5.37:g.176025076G>A	ENSP00000305839:p.Ser587Leu		175957682	NM_052899	C9JM70|Q8ND74|Q96PZ4	Missense_Mutation	SNP	ENST00000303991.4	37	CCDS4405.1	.	.	.	.	.	.	.	.	.	.	G	4.919	0.170719	0.09391	.	.	ENSG00000169258	ENST00000303991;ENST00000335532	T	0.09538	2.97	4.26	-1.24	0.09435	.	1.205020	0.06484	N	0.733488	T	0.05273	0.0140	N	0.04203	-0.255	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43909	-0.9362	10	0.27785	T	0.31	-2.0E-4	9.7157	0.40274	0.5695:0.0:0.4305:0.0	.	587	Q7Z2K8	GRIN1_HUMAN	L	587	ENSP00000305839:S587L	ENSP00000305839:S587L	S	-	2	0	GPRIN1	175957682	0.000000	0.05858	0.000000	0.03702	0.191000	0.23601	-0.191000	0.09601	-0.164000	0.10927	0.455000	0.32223	TCG		0.562	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1	NM_052899	
ZNF454	285676	broad.mit.edu	37	5	178373987	178373987	+	Splice_Site	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:178373987G>T	ENST00000320129.3	+	4	553	c.250G>T	c.(250-252)Gac>Tac	p.D84Y	ZNF454_ENST00000519564.1_Splice_Site_p.D84Y	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	84	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.D84Y(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		CTTCTGTCTTGGTAAGAATCA	0.547																																					p.D84Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G250T	5						.						88.0	87.0	87.0					5																	178373987		2203	4300	6503	178306593	SO:0001630	splice_region_variant	285676	exon4			AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"""Zinc fingers, C2H2-type"", ""-"""	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.250+1G>T	5.37:g.178373987G>T			178306593	NM_182594	Q2M1P2|Q2M323	Nonstop_Mutation	SNP	ENST00000320129.3	37	CCDS4441.1	.	.	.	.	.	.	.	.	.	.	G	9.891	1.204330	0.22205	.	.	ENSG00000178187	ENST00000320129;ENST00000519564	T;T	0.09630	2.96;2.96	4.15	4.15	0.48705	Krueppel-associated box (1);	0.000000	0.37095	U	0.002259	T	0.13756	0.0333	N	0.22421	0.69	0.80722	D	1	D	0.67145	0.996	P	0.54372	0.75	T	0.01720	-1.1288	10	0.87932	D	0	.	12.1305	0.53940	0.0:0.0:1.0:0.0	.	84	Q8N9F8	ZN454_HUMAN	Y	84	ENSP00000326249:D84Y;ENSP00000430354:D84Y	ENSP00000326249:D84Y	D	+	1	0	ZNF454	178306593	0.999000	0.42202	0.983000	0.44433	0.075000	0.17131	4.373000	0.59537	2.323000	0.78572	0.563000	0.77884	GAC		0.547	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253476.2	XM_209718	Missense_Mutation
ADAMTS2	9509	broad.mit.edu	37	5	178541236	178541236	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:178541236A>G	ENST00000251582.7	-	22	3369	c.3268T>C	c.(3268-3270)Tgc>Cgc	p.C1090R		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1090	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.C1090R(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CAGGACTTGCAGCACAGCTTG	0.522																																					p.C1090R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3268C	5						.						116.0	89.0	98.0					5																	178541236		2203	4300	6503	178473842	SO:0001583	missense	9509	exon22			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.3268T>C	5.37:g.178541236A>G	ENSP00000251582:p.Cys1090Arg		178473842	NM_014244		Missense_Mutation	SNP	ENST00000251582.7	37	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.484205	0.84854	.	.	ENSG00000087116	ENST00000251582	T	0.70986	-0.53	5.39	5.39	0.77823	PLAC (1);	0.000000	0.64402	D	0.000007	D	0.83468	0.5261	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.85673	0.1296	10	0.87932	D	0	.	14.8734	0.70478	1.0:0.0:0.0:0.0	.	1090	O95450	ATS2_HUMAN	R	1090	ENSP00000251582:C1090R	ENSP00000251582:C1090R	C	-	1	0	ADAMTS2	178473842	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.157000	0.94714	2.174000	0.68829	0.459000	0.35465	TGC		0.522	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244	
BTNL8	79908	broad.mit.edu	37	5	180335598	180335598	+	Missense_Mutation	SNP	T	T	G	rs201214790	byFrequency	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:180335598T>G	ENST00000340184.4	+	2	268	c.62T>G	c.(61-63)gTg>gGg	p.V21G	BTNL8_ENST00000231229.4_Missense_Mutation_p.V21G|BTNL8_ENST00000508408.1_Missense_Mutation_p.V21G|BTNL8_ENST00000505126.1_5'Flank|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000511704.1_Intron|Y_RNA_ENST00000410920.1_RNA|BTNL8_ENST00000533815.2_5'Flank	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	
IRX2	153572	broad.mit.edu	37	5	2749898	2749898	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:2749898C>T	ENST00000382611.6	-	2	501	c.253G>A	c.(253-255)Gca>Aca	p.A85T	IRX2_ENST00000302057.5_Missense_Mutation_p.A85T|C5orf38_ENST00000334000.3_5'Flank|C5orf38_ENST00000397835.4_5'Flank|C5orf38_ENST00000457752.2_5'Flank|IRX2_ENST00000502957.1_5'UTR|C5orf38_ENST00000515640.1_5'Flank|C5orf38_ENST00000505778.1_5'Flank	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	85					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.A85T(1)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		TCGTAGGGTGCGCCCTGGAAC	0.697																																					p.A85T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G253A	5						.						45.0	51.0	49.0					5																	2749898		2203	4299	6502	2802898	SO:0001583	missense	153572	exon2			AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"""Homeoboxes / TALE class"""	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.253G>A	5.37:g.2749898C>T	ENSP00000372056:p.Ala85Thr		2802898	NM_001134222	Q68A19|Q7Z2I7	Missense_Mutation	SNP	ENST00000382611.6	37	CCDS3868.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.638273	0.47153	.	.	ENSG00000170561	ENST00000382611;ENST00000302057	T;T	0.66460	-0.21;-0.21	4.9	2.81	0.32909	.	0.110784	0.64402	D	0.000005	T	0.48114	0.1482	N	0.17082	0.46	0.41048	D	0.985288	B	0.23185	0.081	B	0.18561	0.022	T	0.46857	-0.9161	10	0.49607	T	0.09	-15.8742	11.1943	0.48704	0.6621:0.3378:0.0:0.0	.	85	Q9BZI1	IRX2_HUMAN	T	85	ENSP00000372056:A85T;ENSP00000307006:A85T	ENSP00000307006:A85T	A	-	1	0	IRX2	2802898	1.000000	0.71417	0.997000	0.53966	0.754000	0.42855	3.703000	0.54808	0.996000	0.38943	0.561000	0.74099	GCA		0.697	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2		
ADCY2	108	broad.mit.edu	37	5	7709334	7709334	+	Missense_Mutation	SNP	G	G	T	rs141886153		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:7709334G>T	ENST00000338316.4	+	10	1501	c.1412G>T	c.(1411-1413)cGg>cTg	p.R471L	ADCY2_ENST00000537121.1_Missense_Mutation_p.R291L|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	471					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)	p.R471L(1)|p.R471Q(1)		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						GGAGAACGACGGAGCCCCCAG	0.587																																					p.R471L												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G1412T	5						.						64.0	60.0	61.0					5																	7709334		2203	4300	6503	7762334	SO:0001583	missense	108	exon10			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.1412G>T	5.37:g.7709334G>T	ENSP00000342952:p.Arg471Leu		7762334	NM_020546	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	g	16.38	3.107693	0.56291	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;D	0.81659	-1.05;-1.52	5.62	5.62	0.85841	.	0.231720	0.35708	N	0.003037	T	0.72922	0.3521	N	0.25890	0.77	0.39447	D	0.967349	B;B	0.30179	0.271;0.001	B;B	0.30401	0.115;0.007	T	0.69285	-0.5185	10	0.25751	T	0.34	.	19.6604	0.95864	0.0:0.0:1.0:0.0	.	291;471	B7Z2C1;Q08462	.;ADCY2_HUMAN	L	471;322;291	ENSP00000342952:R471L;ENSP00000444803:R291L	ENSP00000342952:R471L	R	+	2	0	ADCY2	7762334	1.000000	0.71417	0.991000	0.47740	0.952000	0.60782	2.734000	0.47368	2.644000	0.89710	0.558000	0.71614	CGG		0.587	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546	
PRDM9	56979	broad.mit.edu	37	5	23527712	23527712	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:23527712C>T	ENST00000296682.3	+	11	2697	c.2515C>T	c.(2515-2517)Cgg>Tgg	p.R839W		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	839					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.R839W(1)|p.R839R(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGAGTGTGGGCGGGGCTTTCG	0.592										HNSCC(3;0.000094)																											p.R839W												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	c.C2515T	5						.						57.0	67.0	64.0					5																	23527712		2174	4295	6469	23563469	SO:0001583	missense	56979	exon11			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2515C>T	5.37:g.23527712C>T	ENSP00000296682:p.Arg839Trp		23563469	NM_020227	B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	4.281	0.051252	0.08243	.	.	ENSG00000164256	ENST00000296682	T	0.08008	3.14	2.88	0.825	0.18824	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09291	0.0229	L	0.53561	1.675	0.09310	N	0.999998	P	0.47962	0.903	B	0.43155	0.41	T	0.22312	-1.0220	9	0.54805	T	0.06	0.08	5.314	0.15845	0.4086:0.3907:0.2006:0.0	.	839	Q9NQV7	PRDM9_HUMAN	W	839	ENSP00000296682:R839W	ENSP00000296682:R839W	R	+	1	2	PRDM9	23563469	0.001000	0.12720	0.342000	0.25602	0.015000	0.08874	0.753000	0.26376	0.214000	0.20742	0.472000	0.43445	CGG		0.592	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227	
CDH9	1007	broad.mit.edu	37	5	26988300	26988300	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:26988300C>A	ENST00000231021.4	-	2	313	c.141G>T	c.(139-141)atG>atT	p.M47I		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	47					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.M47I(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TGCGACGTAGCATTTTACCGT	0.393																																					p.M47I	Melanoma(8;187 585 15745 40864 52829)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G141T	5						.						132.0	127.0	129.0					5																	26988300		2203	4300	6503	27024057	SO:0001583	missense	1007	exon2			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.141G>T	5.37:g.26988300C>A	ENSP00000231021:p.Met47Ile		27024057	NM_016279	Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	4.631	0.117363	0.08881	.	.	ENSG00000113100	ENST00000231021;ENST00000513289;ENST00000511822	T;T;T	0.55413	0.6;0.52;8.13	5.64	1.52	0.23074	.	0.596158	0.18981	N	0.125861	T	0.26304	0.0642	N	0.11427	0.14	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.14035	-1.0487	9	.	.	.	.	5.5607	0.17142	0.533:0.3134:0.0:0.1536	.	47;47	E7EPN0;Q9ULB4	.;CADH9_HUMAN	I	47	ENSP00000231021:M47I;ENSP00000426239:M47I;ENSP00000422538:M47I	.	M	-	3	0	CDH9	27024057	0.001000	0.12720	0.057000	0.19452	0.795000	0.44927	-1.182000	0.03082	0.283000	0.22279	-0.293000	0.09583	ATG		0.393	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279	
ZFR	51663	broad.mit.edu	37	5	32407065	32407065	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:32407065C>T	ENST00000265069.8	-	6	948	c.846G>A	c.(844-846)caG>caA	p.Q282Q		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	282	Ala-rich.				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.Q282Q(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		gctgctgctgctgttgATAGT	0.438																																					p.Q282Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G846A	5						.						33.0	32.0	32.0					5																	32407065		2203	4295	6498	32442822	SO:0001819	synonymous_variant	51663	exon6			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.846G>A	5.37:g.32407065C>T			32442822	NM_016107	B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Silent	SNP	ENST00000265069.8	37	CCDS34139.1																																																																																				0.438	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1		
NIPBL	25836	broad.mit.edu	37	5	37052524	37052524	+	Silent	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:37052524A>G	ENST00000282516.8	+	42	7618	c.7119A>G	c.(7117-7119)acA>acG	p.T2373T	NIPBL_ENST00000448238.2_Silent_p.T2373T	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2373					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.T2373T(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAATCAACACATGCCTAAAAG	0.428																																					p.T2373T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A7119G	5						.						97.0	99.0	98.0					5																	37052524		2203	4300	6503	37088281	SO:0001819	synonymous_variant	25836	exon42			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.7119A>G	5.37:g.37052524A>G			37088281	NM_015384	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Silent	SNP	ENST00000282516.8	37	CCDS3920.1																																																																																				0.428	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384	
NNT	23530	broad.mit.edu	37	5	43675708	43675708	+	Silent	SNP	G	G	A	rs200717633		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:43675708G>A	ENST00000264663.5	+	18	2951	c.2730G>A	c.(2728-2730)acG>acA	p.T910T	NNT_ENST00000344920.4_Silent_p.T910T|NNT_ENST00000512996.2_Silent_p.T779T	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	910					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)	p.T910T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					GCACACATACGGAAATCAACC	0.393													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16890	0.0		0.0	False		,,,				2504	0.0				p.T910T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2730A	5						.						92.0	85.0	87.0					5																	43675708		2203	4300	6503	43711465	SO:0001819	synonymous_variant	23530	exon18			U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.2730G>A	5.37:g.43675708G>A			43711465	NM_182977	Q16796|Q2TB60|Q8N3V4	Silent	SNP	ENST00000264663.5	37	CCDS3949.1																																																																																				0.393	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977	
ISL1	3670	broad.mit.edu	37	5	50680505	50680505	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:50680505C>T	ENST00000230658.7	+	2	744	c.159C>T	c.(157-159)gaC>gaT	p.D53D	ISL1_ENST00000511384.1_Silent_p.D53D|CTD-2314G24.2_ENST00000559112.2_RNA	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	53	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				atrial septum morphogenesis (GO:0060413)|axon regeneration (GO:0031103)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell myoblast differentiation (GO:0060379)|cardiac right ventricle morphogenesis (GO:0003215)|cellular response to glucocorticoid stimulus (GO:0071385)|endocardial cushion morphogenesis (GO:0003203)|innervation (GO:0060384)|mesenchymal cell differentiation (GO:0048762)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of protein homodimerization activity (GO:0090074)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate specification (GO:0048665)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|pancreas development (GO:0031016)|peripheral nervous system neuron axonogenesis (GO:0048936)|pharyngeal system development (GO:0060037)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage colony-stimulating factor production (GO:1901258)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|retinal ganglion cell axon guidance (GO:0031290)|secondary heart field specification (GO:0003139)|sensory system development (GO:0048880)|spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron differentiation (GO:0021522)|trigeminal nerve development (GO:0021559)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|zinc ion binding (GO:0008270)	p.D53D(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				AGTATTTGGACGAGAGCTGTA	0.413																																					p.D53D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C159T	5						.						219.0	205.0	209.0					5																	50680505		1878	4127	6005	50716262	SO:0001819	synonymous_variant	3670	exon2			BC031213	CCDS43314.1	5q11.2	2012-03-09	2007-07-13		ENSG00000016082	ENSG00000016082		"""Homeoboxes / LIM class"""	6132	protein-coding gene	gene with protein product		600366	"""ISL1 transcription factor, LIM/homeodomain, (islet-1)"""			7912209	Standard	NM_002202		Approved	Isl-1, ISLET1	uc003jor.3	P61371	OTTHUMG00000162281	ENST00000230658.7:c.159C>T	5.37:g.50680505C>T			50716262	NM_002202	P20663|P47894	Silent	SNP	ENST00000230658.7	37	CCDS43314.1																																																																																				0.413	ISL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368413.3	NM_002202	
PLK2	10769	broad.mit.edu	37	5	57753012	57753012	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:57753012delA	ENST00000274289.3	-	7	1304	c.1004delT	c.(1003-1005)ttgfs	p.L335fs	PLK2_ENST00000502671.1_5'UTR	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	335					G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.L335fs*68(2)		endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		ACCAACCTGCAAAAAAAAGTC	0.413																																					p.L335fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.1004delT	5						.						72.0	69.0	70.0					5																	57753012		2203	4300	6503	57788769	SO:0001589	frameshift_variant	10769	exon7				CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"""serum-inducible kinase"""	607023	"""polo-like kinase 2 (Drosophila)"""				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.1004delT	5.37:g.57753012delA	ENSP00000274289:p.Leu335fs		57788769	NM_006622	O60679|Q96CV7|Q9UE61	Frame_Shift_Del	DEL	ENST00000274289.3	37	CCDS3974.1																																																																																				0.413	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	NM_006622	
CENPK	64105	broad.mit.edu	37	5	64850670	64850670	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:64850670T>C	ENST00000396679.1	-	3	279	c.65A>G	c.(64-66)gAa>gGa	p.E22G	CENPK_ENST00000510354.1_Missense_Mutation_p.E22G|CENPK_ENST00000508421.1_5'UTR|CENPK_ENST00000514814.1_Missense_Mutation_p.E22G|CENPK_ENST00000506282.2_Intron|CENPK_ENST00000510693.1_5'UTR|CENPK_ENST00000242872.3_Missense_Mutation_p.E22G	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN	centromere protein K	22					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)		p.E22G(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		AATAAGTTCTTCTTCAGTATT	0.303																																					p.E22G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A65G	5						.						202.0	210.0	207.0					5																	64850670		2203	4297	6500	64886426	SO:0001583	missense	64105	exon3			BC008504	CCDS3984.1	5q12.3	2013-11-05			ENSG00000123219	ENSG00000123219			29479	protein-coding gene	gene with protein product		611502				8950979	Standard	NM_022145		Approved	FKSG14, SOLT, CENP-K	uc003jtu.3	Q9BS16	OTTHUMG00000131227	ENST00000396679.1:c.65A>G	5.37:g.64850670T>C	ENSP00000379911:p.Glu22Gly		64886426	NM_022145	Q9H4L0	Missense_Mutation	SNP	ENST00000396679.1	37	CCDS3984.1	.	.	.	.	.	.	.	.	.	.	T	20.0	3.930524	0.73327	.	.	ENSG00000123219	ENST00000514814;ENST00000396679;ENST00000242872;ENST00000515497;ENST00000502997;ENST00000510354	.	.	.	6.04	4.89	0.63831	.	0.398960	0.29046	N	0.013314	T	0.56277	0.1974	M	0.64997	1.995	0.36574	D	0.873155	P	0.35793	0.521	B	0.40825	0.341	T	0.61667	-0.7016	9	0.37606	T	0.19	-8.1032	8.737	0.34534	0.0:0.0843:0.0:0.9157	.	22	Q9BS16	CENPK_HUMAN	G	22;22;22;24;22;22	.	ENSP00000242872:E22G	E	-	2	0	CENPK	64886426	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	2.474000	0.45154	1.120000	0.41904	0.459000	0.35465	GAA		0.303	CENPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253971.2	NM_022145	
LHFPL2	10184	broad.mit.edu	37	5	77805841	77805841	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:77805841G>A	ENST00000515007.2	-	2	506	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	LHFPL2_ENST00000380345.2_Missense_Mutation_p.R66C			Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2	66						integral component of membrane (GO:0016021)		p.R66C(1)		endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		CGGATGCAGCGGGCGTAGATG	0.741																																					p.R66C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C196T	5						.						12.0	15.0	14.0					5																	77805841		2196	4296	6492	77841597	SO:0001583	missense	10184	exon4			D86961	CCDS4042.1	5q13	2008-02-05			ENSG00000145685	ENSG00000145685			6588	protein-coding gene	gene with protein product		609718				10329012	Standard	NM_005779		Approved	KIAA0206	uc003kfo.3	Q6ZUX7	OTTHUMG00000107579	ENST00000515007.2:c.196C>T	5.37:g.77805841G>A	ENSP00000425906:p.Arg66Cys		77841597	NM_005779	B2RMQ6|Q7Z5P0|Q92605	Missense_Mutation	SNP	ENST00000515007.2	37	CCDS4042.1	.	.	.	.	.	.	.	.	.	.	G	35	5.591065	0.96590	.	.	ENSG00000145685	ENST00000380345;ENST00000515007	T;T	0.74106	-0.81;-0.81	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.87014	0.6072	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	D	0.88049	0.2786	10	0.59425	D	0.04	-24.127	18.421	0.90590	0.0:0.0:1.0:0.0	.	66	Q6ZUX7	LHPL2_HUMAN	C	66	ENSP00000369702:R66C;ENSP00000425906:R66C	ENSP00000369702:R66C	R	-	1	0	LHFPL2	77841597	1.000000	0.71417	0.961000	0.40146	0.799000	0.45148	9.470000	0.97683	2.600000	0.87896	0.655000	0.94253	CGC		0.741	LHFPL2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369098.2	NM_005779	
CKMT2	1160	broad.mit.edu	37	5	80547084	80547084	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:80547084C>T	ENST00000424301.2	+	3	371	c.133C>T	c.(133-135)Cct>Tct	p.P45S	CKMT2-AS1_ENST00000503483.2_RNA|CKMT2_ENST00000505704.1_3'UTR|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.P45S|CKMT2_ENST00000254035.4_Missense_Mutation_p.P45S|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000511495.1_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	45	Cardiolipin-binding. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)	p.P45S(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	CCGGGAGCAGCCTAGGCTATT	0.562																																					p.P45S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C133T	5						.						119.0	120.0	120.0					5																	80547084		2203	4300	6503	80582840	SO:0001583	missense	1160	exon3				CCDS4053.1	5q14.1	2013-09-20			ENSG00000131730	ENSG00000131730	2.7.3.2		1996	protein-coding gene	gene with protein product		123295				2324105	Standard	NM_001825		Approved	SMTCK	uc003khd.4	P17540	OTTHUMG00000119013	ENST00000424301.2:c.133C>T	5.37:g.80547084C>T	ENSP00000404203:p.Pro45Ser		80582840	NM_001825	Q6ICS8|Q8N1E1	Missense_Mutation	SNP	ENST00000424301.2	37	CCDS4053.1	.	.	.	.	.	.	.	.	.	.	C	0.388	-0.925277	0.02377	.	.	ENSG00000131730	ENST00000254035;ENST00000511719;ENST00000437669;ENST00000424301;ENST00000505060	T;T;T;T;T	0.62232	0.04;0.04;0.04;0.04;0.04	5.17	4.21	0.49690	ATP:guanido phosphotransferase, N-terminal (2);	0.788067	0.12025	N	0.506534	T	0.43211	0.1237	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.15052	0.012	T	0.13710	-1.0499	10	0.23302	T	0.38	-13.9436	14.7559	0.69564	0.2181:0.7819:0.0:0.0	.	45	P17540	KCRS_HUMAN	S	45	ENSP00000254035:P45S;ENSP00000423264:P45S;ENSP00000410289:P45S;ENSP00000404203:P45S;ENSP00000427635:P45S	ENSP00000254035:P45S	P	+	1	0	CKMT2	80582840	0.002000	0.14202	0.096000	0.21009	0.001000	0.01503	0.234000	0.17930	2.374000	0.81015	0.655000	0.94253	CCT		0.562	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369600.1	NM_001825	
VCAN	1462	broad.mit.edu	37	5	82837401	82837401	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:82837401C>A	ENST00000265077.3	+	8	9144	c.8579C>A	c.(8578-8580)tCc>tAc	p.S2860Y	VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.S1873Y	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2860	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TCTGTAATGTCCCCACAGGAT	0.468																																					p.S1873Y												.	.	0			c.C5618A	5						.						83.0	85.0	85.0					5																	82837401		2203	4300	6503	82873157	SO:0001583	missense	1462	exon7			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.8579C>A	5.37:g.82837401C>A	ENSP00000265077:p.Ser2860Tyr		82873157	NM_001164097	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410584	0.62399	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	D;D	0.90069	-2.6;-2.61	5.93	4.11	0.48088	.	0.925258	0.09155	N	0.840995	D	0.90431	0.7004	L	0.55481	1.735	0.19300	N	0.999975	D;P	0.67145	0.996;0.933	D;B	0.65874	0.939;0.401	T	0.76756	-0.2842	10	0.07644	T	0.81	.	7.476	0.27376	0.1359:0.7253:0.0:0.1387	.	1873;2860	P13611-2;P13611	.;CSPG2_HUMAN	Y	2860;1873	ENSP00000265077:S2860Y;ENSP00000340062:S1873Y	ENSP00000265077:S2860Y	S	+	2	0	VCAN	82873157	0.000000	0.05858	0.001000	0.08648	0.031000	0.12232	0.385000	0.20685	0.793000	0.33875	0.655000	0.94253	TCC		0.468	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	
TMEM161B	153396	broad.mit.edu	37	5	87501681	87501681	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:87501681C>T	ENST00000296595.6	-	8	874	c.750G>A	c.(748-750)ctG>ctA	p.L250L	TMEM161B_ENST00000511218.1_Silent_p.L68L|TMEM161B_ENST00000514135.1_Silent_p.L250L|TMEM161B_ENST00000509387.1_Silent_p.L123L|TMEM161B_ENST00000512429.1_Silent_p.L239L|TMEM161B_ENST00000506536.1_Silent_p.L68L	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	250						integral component of membrane (GO:0016021)		p.L250L(1)		endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		GCATTTGAGCCAGTCGTAATC	0.348																																					p.L250L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G750A	5						.						87.0	87.0	87.0					5																	87501681		2203	4300	6503	87537437	SO:0001819	synonymous_variant	153396	exon8			BC037287	CCDS4065.1, CCDS75269.1, CCDS75270.1	5q14.3	2008-02-05			ENSG00000164180	ENSG00000164180			28483	protein-coding gene	gene with protein product						12477932	Standard	NM_001289008		Approved	MGC33214	uc003kjc.3	Q8NDZ6	OTTHUMG00000131323	ENST00000296595.6:c.750G>A	5.37:g.87501681C>T			87537437	NM_153354	Q5CZH7|Q6UWQ6	Silent	SNP	ENST00000296595.6	37	CCDS4065.1																																																																																				0.348	TMEM161B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254094.1	NM_153354	
MEF2C	4208	broad.mit.edu	37	5	88018525	88018525	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:88018525G>A	ENST00000437473.2	-	11	1735	c.1318C>T	c.(1318-1320)Cgg>Tgg	p.R440W	MEF2C_ENST00000340208.5_Missense_Mutation_p.R450W|MEF2C_ENST00000539796.1_Missense_Mutation_p.R384W|MEF2C_ENST00000510942.1_Missense_Mutation_p.R432W|MEF2C_ENST00000506554.1_3'UTR|MEF2C_ENST00000514015.1_Missense_Mutation_p.R408W|MEF2C_ENST00000504921.2_Missense_Mutation_p.R440W|MEF2C_ENST00000508569.1_Missense_Mutation_p.R400W|MEF2C_ENST00000514028.1_Missense_Mutation_p.R440W|MEF2C_ENST00000424173.2_Missense_Mutation_p.R430W|CTC-467M3.1_ENST00000510274.1_RNA	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	440					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|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)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|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 core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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.R440W(1)|p.R430W(1)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		AATTCGTTCCGGTGATCCTCT	0.582										HNSCC(66;0.2)																											p.R440W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1318T	5						.						147.0	154.0	152.0					5																	88018525		2032	4180	6212	88054281	SO:0001583	missense	4208	exon11			AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.1318C>T	5.37:g.88018525G>A	ENSP00000396219:p.Arg440Trp		88054281	NM_001193350	C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	ENST00000437473.2	37	CCDS47245.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195660	0.58126	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000508569;ENST00000514015;ENST00000539796	T;T;T;T;T;T;T;T;T	0.73047	-0.07;-0.06;-0.07;-0.05;-0.05;-0.05;-0.71;-0.54;0.37	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.83138	0.5189	M	0.64404	1.975	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.80764	0.937;0.972;0.994;0.978	D	0.84158	0.0427	10	0.87932	D	0	-4.6243	19.3051	0.94158	0.0:0.0:1.0:0.0	.	430;450;440;432	C9JMZ0;F8W7V7;Q06413;Q06413-2	.;.;MEF2C_HUMAN;.	W	450;430;440;440;440;432;400;408;384	ENSP00000340874:R450W;ENSP00000389610:R430W;ENSP00000421925:R440W;ENSP00000426665:R440W;ENSP00000396219:R440W;ENSP00000422390:R432W;ENSP00000423597:R400W;ENSP00000424606:R408W;ENSP00000441153:R384W	ENSP00000340874:R450W	R	-	1	2	MEF2C	88054281	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.871000	0.63042	2.723000	0.93209	0.655000	0.94253	CGG		0.582	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397	
TTC37	9652	broad.mit.edu	37	5	94863779	94863779	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:94863779C>A	ENST00000358746.2	-	13	1370	c.1072G>T	c.(1072-1074)Gag>Tag	p.E358*		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	358						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)		p.E358*(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						ATCAAAGCCTCTGCTTTCAAA	0.378																																					p.E358X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1072T	5						.						87.0	86.0	87.0					5																	94863779		2203	4300	6503	94889535	SO:0001587	stop_gained	9652	exon13			AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.1072G>T	5.37:g.94863779C>A	ENSP00000351596:p.Glu358*		94889535	NM_014639	O15077|Q6PJI3	Nonsense_Mutation	SNP	ENST00000358746.2	37	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	C	38	6.696363	0.97768	.	.	ENSG00000198677	ENST00000358746;ENST00000514952	.	.	.	5.22	4.36	0.52297	.	0.107090	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	13.7443	0.62865	0.0:0.9255:0.0:0.0745	.	.	.	.	X	358;310	.	ENSP00000351596:E358X	E	-	1	0	TTC37	94889535	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.723000	0.54955	1.195000	0.43115	0.484000	0.47621	GAG		0.378	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639	
RIOK2	55781	broad.mit.edu	37	5	96503502	96503502	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:96503502G>A	ENST00000283109.3	-	8	1134	c.1066C>T	c.(1066-1068)Cgg>Tgg	p.R356W	RIOK2_ENST00000508447.1_Missense_Mutation_p.R356W|CTD-2215E18.1_ENST00000509481.1_Intron	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	356	Protein kinase.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R356W(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		AGACAGTTCCGTTCACTTTCA	0.403																																					p.R356W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1066T	5						.						141.0	139.0	140.0					5																	96503502		2203	4300	6503	96529258	SO:0001583	missense	55781	exon8			AK002021	CCDS4089.1, CCDS54884.1	5q14	2012-12-10	2012-12-10		ENSG00000058729	ENSG00000058729			18999	protein-coding gene	gene with protein product			"""RIO kinase 2 (yeast)"""				Standard	NM_018343		Approved	FLJ11159	uc003kmz.3	Q9BVS4	OTTHUMG00000128723	ENST00000283109.3:c.1066C>T	5.37:g.96503502G>A	ENSP00000283109:p.Arg356Trp		96529258	NM_018343	D6RDI3|Q9NUT0	Missense_Mutation	SNP	ENST00000283109.3	37	CCDS4089.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.882389	0.33255	.	.	ENSG00000058729	ENST00000283109;ENST00000508447	T;T	0.18657	2.2;2.2	5.25	-3.09	0.05331	.	2.659730	0.00982	N	0.003393	T	0.10551	0.0258	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.32798	-0.9893	10	0.66056	D	0.02	-5.0408	3.5724	0.07922	0.1379:0.4409:0.1585:0.2627	.	356;356	D6RDI3;Q9BVS4	.;RIOK2_HUMAN	W	356	ENSP00000283109:R356W;ENSP00000420932:R356W	ENSP00000283109:R356W	R	-	1	2	RIOK2	96529258	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.395000	0.07287	-0.219000	0.10003	0.585000	0.79938	CGG		0.403	RIOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250628.1	NM_018343	
WDR55	54853	broad.mit.edu	37	5	140049102	140049102	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:140049102delA	ENST00000358337.5	+	7	1252	c.1015delA	c.(1015-1017)aaafs	p.K341fs	WDR55_ENST00000520764.1_3'UTR	NM_017706.4	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	341					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)		p.K341fs*8(1)		NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGTCGGCGCAAAAAAAAGGG	0.592																																					p.K339fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1015delA	5						.						43.0	45.0	45.0					5																	140049102		2203	4300	6503	140029286	SO:0001589	frameshift_variant	54853	exon7			AK000202	CCDS4235.1	5q31.3	2013-01-09			ENSG00000120314	ENSG00000120314		"""WD repeat domain containing"""	25971	protein-coding gene	gene with protein product						12477932	Standard	NM_017706		Approved	FLJ20195, FLJ21702	uc003lgr.4	Q9H6Y2	OTTHUMG00000129506	ENST00000358337.5:c.1015delA	5.37:g.140049102delA	ENSP00000351100:p.Lys341fs		140029286	NM_017706	Q9NXK4	Frame_Shift_Del	DEL	ENST00000358337.5	37	CCDS4235.1																																																																																				0.592	WDR55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251680.3	NM_017706	
GPRIN1	114787	broad.mit.edu	37	5	176026122	176026134	+	Frame_Shift_Del	DEL	CAAAGACCCAGGA	CAAAGACCCAGGA	-	rs3797464|rs200519605|rs386695335|rs550332435|rs142779818|rs371149640|rs199714570|rs373697082	byFrequency	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	CAAAGACCCAGGA	CAAAGACCCAGGA	CAAAGACCCAGGA	-	CAAAGACCCAGGA	-	Unknown	Valid	Germline	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:176026122_176026134delCAAAGACCCAGGA	ENST00000303991.4	-	2	879_891	c.702_714delTCCTGGGTCTTTG	c.(700-714)gatcctgggtctttgfs	p.DPGSL234fs		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	234				Missing (in Ref. 4; CAD38868). {ECO:0000305}.	neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)		p.L238L(1)		NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCACCTTTCTCAAAGACCCAGGATCCTCCTTCC	0.488																																					p.234_238del												.	.	1	Substitution - coding silent(1)	lung(1)	c.702_714del	5						.			721,3495		76,569,1463						-0.3	0.0		dbSNP_107	106	1092,7070		103,886,3092	no	frameshift	GPRIN1	NM_052899.2		179,1455,4555	A1A1,A1R,RR		13.3791,17.1015,14.647				1813,10565				175958740	SO:0001589	frameshift_variant	114787	exon2			AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.702_714delTCCTGGGTCTTTG	5.37:g.176026122_176026134delCAAAGACCCAGGA	ENSP00000305839:p.Asp234fs		175958728	NM_052899	C9JM70|Q8ND74|Q96PZ4	Frame_Shift_Del	DEL	ENST00000303991.4	37	CCDS4405.1																																																																																				0.488	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1	NM_052899	
TRIM41	90933	broad.mit.edu	37	5	180661970	180661970	+	3'UTR	SNP	T	T	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr5:180661970T>G	ENST00000315073.5	+	0	2798				TRIM41_ENST00000351937.5_Silent_p.S502S	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.S502S(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCAGCCTTCTCTCACCTACT	0.577																																					p.S502S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1506G	5						.						103.0	106.0	105.0					5																	180661970		2203	4300	6503	180594576	SO:0001624	3_prime_UTR_variant	90933	exon7			AF258579	CCDS4465.1, CCDS4466.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146063	ENSG00000146063		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19013	protein-coding gene	gene with protein product	"""RING-finger protein that interacts with C kinase"""	610530	"""tripartite motif-containing 41"""			16022281	Standard	NM_033549		Approved	MGC1127, RINCK	uc003mne.2	Q8WV44	OTTHUMG00000130965	ENST00000315073.5:c.*195T>G	5.37:g.180661970T>G			180594576	NM_201627	B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	Silent	SNP	ENST00000315073.5	37	CCDS4466.1																																																																																				0.577	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253574.3	NM_201627	
CCNC	892	broad.mit.edu	37	6	99998166	99998166	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:99998166T>C	ENST00000520429.1	-	8	903	c.458A>G	c.(457-459)tAt>tGt	p.Y153C	CCNC_ENST00000518714.1_Missense_Mutation_p.Y153C|CCNC_ENST00000369220.4_Missense_Mutation_p.Y153C|CCNC_ENST00000521017.1_5'Flank|CCNC_ENST00000523799.1_Missense_Mutation_p.Y68C|CCNC_ENST00000523985.1_Missense_Mutation_p.Y68C|CCNC_ENST00000520371.1_Missense_Mutation_p.Y153C	NM_001013399.1|NM_005190.3	NP_001013417.1|NP_005181.2	P24863	CCNC_HUMAN	cyclin C	153					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|mediator complex (GO:0016592)|nucleoplasm (GO:0005654)		p.Y153C(1)					all_cancers(76;8.46e-06)|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;0.064)		ATAAGGATGATACACTATCAA	0.338																																					p.Y153C	GBM(57;273 1020 40094 44454 49348)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A458G	6						.						138.0	115.0	123.0					6																	99998166		2203	4300	6503	100104887	SO:0001583	missense	892	exon8				CCDS34502.1, CCDS47461.1	6q21	2008-02-05			ENSG00000112237	ENSG00000112237			1581	protein-coding gene	gene with protein product		123838				1833066	Standard	XM_005267202		Approved	CycC	uc003pqe.3	P24863	OTTHUMG00000015268	ENST00000520429.1:c.458A>G	6.37:g.99998166T>C	ENSP00000428982:p.Tyr153Cys		100104887	NM_005190	B4DPZ1|Q9H543	Missense_Mutation	SNP	ENST00000520429.1	37	CCDS34502.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.152191	0.78001	.	.	ENSG00000112237	ENST00000520429;ENST00000369220;ENST00000520371;ENST00000523799;ENST00000486428;ENST00000523985;ENST00000518714;ENST00000524049	T;T;T;T;T;T;T;T	0.31247	1.92;1.92;1.92;1.51;1.5;1.51;1.92;1.52	5.83	5.83	0.93111	Cyclin-like (2);	0.000000	0.85682	D	0.000000	T	0.53061	0.1773	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.977	T	0.59204	-0.7498	9	.	.	.	-9.8177	16.5602	0.84551	0.0:0.0:0.0:1.0	.	153;153	Q7Z4L3;P24863	.;CCNC_HUMAN	C	153;153;153;68;99;68;153;68	ENSP00000428982:Y153C;ENSP00000358222:Y153C;ENSP00000430381:Y153C;ENSP00000430014:Y68C;ENSP00000430077:Y99C;ENSP00000430119:Y68C;ENSP00000430294:Y153C;ENSP00000427885:Y68C	.	Y	-	2	0	CCNC	100104887	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.994000	0.88315	2.367000	0.80283	0.529000	0.55759	TAT		0.338	CCNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041613.2	NM_005190	
SIM1	6492	broad.mit.edu	37	6	100898202	100898202	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:100898202G>T	ENST00000369208.3	-	4	1071	c.289C>A	c.(289-291)Cca>Aca	p.P97T	SIM1_ENST00000262901.4_Missense_Mutation_p.P97T			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	97	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				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.P97T(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)		TTCCCATCTGGGGCTACCACG	0.527																																					p.P97T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C289A	6						.						154.0	140.0	145.0					6																	100898202		2203	4300	6503	101004923	SO:0001583	missense	6492	exon3			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.289C>A	6.37:g.100898202G>T	ENSP00000358210:p.Pro97Thr		101004923	NM_005068	Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021669	0.93462	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.17213	2.29;2.29	4.99	4.99	0.66335	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.19167	0.0460	L	0.41415	1.275	0.80722	D	1	D	0.56035	0.974	P	0.55222	0.771	T	0.00904	-1.1520	10	0.49607	T	0.09	.	18.2737	0.90076	0.0:0.0:1.0:0.0	.	97	P81133	SIM1_HUMAN	T	97	ENSP00000358210:P97T;ENSP00000262901:P97T	ENSP00000262901:P97T	P	-	1	0	SIM1	101004923	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.444000	0.97578	2.326000	0.78906	0.561000	0.74099	CCA		0.527	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068	
MAK	4117	broad.mit.edu	37	6	10830846	10830846	+	Silent	SNP	G	G	A	rs138352622		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:10830846G>A	ENST00000313243.2	-	2	418	c.36C>T	c.(34-36)gaC>gaT	p.D12D	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000536370.1_Silent_p.D12D|MAK_ENST00000354489.2_Silent_p.D12D|MAK_ENST00000538030.1_Silent_p.D12D|MAK_ENST00000474039.1_Silent_p.D12D			P20794	MAK_HUMAN	male germ cell-associated kinase	12	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|photoreceptor cell maintenance (GO:0045494)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|transcription coactivator activity (GO:0003713)	p.D12D(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				CATACGTGCCGTCCCCCAACT	0.438																																					p.D12D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C36T	6						.	G	,	0,4406		0,0,2203	202.0	176.0	185.0		36,36	-6.3	0.8	6	dbSNP_134	185	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	MAK	NM_001242385.1,NM_005906.4	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	12/584,12/624	10830846	2,13004	2203	4300	6503	10938832	SO:0001819	synonymous_variant	4117	exon1				CCDS4516.1, CCDS75398.1, CCDS75399.1	6p24.2	2014-01-28			ENSG00000111837	ENSG00000111837			6816	protein-coding gene	gene with protein product		154235				16951154	Standard	NM_005906		Approved	dJ417M14.2, RP62	uc021ylk.1	P20794	OTTHUMG00000014247	ENST00000313243.2:c.36C>T	6.37:g.10830846G>A			10938832	NM_005906	F1T0K6|G1FL29|Q547D0|Q9NUH7	Silent	SNP	ENST00000313243.2	37	CCDS4516.1																																																																																				0.438	MAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039841.1	NM_005906	
NEDD9	4739	broad.mit.edu	37	6	11191373	11191373	+	Silent	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:11191373G>A	ENST00000379446.5	-	5	895	c.729C>T	c.(727-729)ttC>ttT	p.F243F	NEDD9_ENST00000504387.1_Silent_p.F243F|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	243					actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)		p.F243F(4)		endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			TGGGAGGGGGGAAGTCATAGT	0.527																																					p.F243F												.	.	4	Substitution - coding silent(4)	large_intestine(4)	c.C729T	6						.						48.0	46.0	47.0					6																	11191373		2203	4297	6500	11299359	SO:0001819	synonymous_variant	4739	exon5			L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"""Cas scaffolding proteins"""	7733	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 2"", ""Cas-like"""	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.729C>T	6.37:g.11191373G>A			11299359	NM_006403	A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Silent	SNP	ENST00000379446.5	37	CCDS4520.1																																																																																				0.527	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039853.2	NM_006403	
C6orf203	51250	broad.mit.edu	37	6	107361336	107361336	+	Silent	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:107361336T>C	ENST00000405204.2	+	2	979	c.372T>C	c.(370-372)gaT>gaC	p.D124D	C6orf203_ENST00000443043.1_Silent_p.D129D|C6orf203_ENST00000311381.5_Silent_p.D124D|C6orf203_ENST00000489790.1_3'UTR	NM_001142468.1	NP_001135940.1	Q9P0P8	CF203_HUMAN	chromosome 6 open reading frame 203	124						mitochondrion (GO:0005739)		p.D124D(1)		large_intestine(4)|lung(2)|prostate(1)|urinary_tract(1)	8	Breast(9;0.00124)|all_epithelial(6;0.0729)	all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23)	BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244)	BRCA - Breast invasive adenocarcinoma(108;0.117)		AGCTTGAGGATGATCCTACTG	0.408																																					p.D129D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T387C	6						.						100.0	101.0	101.0					6																	107361336		2203	4300	6503	107468029	SO:0001819	synonymous_variant	51250	exon3			AF151064	CCDS5058.1	6q21	2012-02-22			ENSG00000130349	ENSG00000130349			17971	protein-coding gene	gene with protein product						11042152, 11707072	Standard	XM_005267008		Approved	HSPC230, PRED31	uc003prq.3	Q9P0P8	OTTHUMG00000015307	ENST00000405204.2:c.372T>C	6.37:g.107361336T>C			107468029	NM_001142470	B3KRG9	Silent	SNP	ENST00000405204.2	37	CCDS5058.1																																																																																				0.408	C6orf203-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041684.1	NM_016487	
MAN1A1	4121	broad.mit.edu	37	6	119510862	119510862	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:119510862C>T	ENST00000368468.3	-	10	1954	c.1513G>A	c.(1513-1515)Gcc>Acc	p.A505T		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	505					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.A505T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		CAAGTACGGGCAATTTCAGCC	0.488																																					p.A505T	Ovarian(136;8 1825 12608 33541 47587)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1513A	6						.						142.0	140.0	141.0					6																	119510862		2203	4300	6503	119552561	SO:0001583	missense	4121	exon10			AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.1513G>A	6.37:g.119510862C>T	ENSP00000357453:p.Ala505Thr		119552561	NM_005907	E7EU32|Q6P052|Q9NU44|Q9UJI3	Missense_Mutation	SNP	ENST00000368468.3	37	CCDS5122.1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.407356	0.25378	.	.	ENSG00000111885	ENST00000368468	T	0.69926	-0.44	5.52	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.48409	0.1498	N	0.11364	0.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55724	-0.8096	10	0.02654	T	1	-27.8528	16.1041	0.81209	0.0:0.8659:0.1341:0.0	.	505	P33908	MA1A1_HUMAN	T	505	ENSP00000357453:A505T	ENSP00000357453:A505T	A	-	1	0	MAN1A1	119552561	1.000000	0.71417	0.999000	0.59377	0.236000	0.25371	4.881000	0.63114	1.271000	0.44313	0.655000	0.94253	GCC		0.488	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042015.1	NM_005907	
PHACTR1	221692	broad.mit.edu	37	6	13228096	13228096	+	Silent	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:13228096G>A	ENST00000379350.1	+	8	1164	c.1035G>A	c.(1033-1035)ttG>ttA	p.L345L	PHACTR1_ENST00000457702.2_Silent_p.L200L|PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Silent_p.L345L			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	345					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)	p.L345L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GCTCTGGGTTGCACTCGGGTG	0.468																																					p.L345L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1035A	6						.						126.0	126.0	126.0					6																	13228096		1900	4121	6021	13336075	SO:0001819	synonymous_variant	221692	exon8			AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.1035G>A	6.37:g.13228096G>A			13336075	NM_030948	A8K1V2|Q3MJ93|Q5JSJ2	Silent	SNP	ENST00000379350.1	37		.	.	.	.	.	.	.	.	.	.	G	8.513	0.867069	0.17250	.	.	ENSG00000112137	ENST00000415087	.	.	.	5.87	5.01	0.66863	.	.	.	.	.	T	0.50956	0.1646	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53443	-0.8438	4	.	.	.	-9.7464	10.9471	0.47306	0.1571:0.0:0.8429:0.0	.	.	.	.	Y	180	.	.	C	+	2	0	PHACTR1	13336075	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	1.943000	0.40253	1.644000	0.50603	-0.119000	0.15052	TGC		0.468	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420	
LAMA2	3908	broad.mit.edu	37	6	129725026	129725026	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:129725026C>T	ENST00000421865.2	+	40	5836	c.5787C>T	c.(5785-5787)agC>agT	p.S1929S		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1929	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.S1929S(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AAGCTTACAGCAATATTAAGG	0.403																																					p.S1929S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5787T	6						.						90.0	87.0	88.0					6																	129725026		2203	4300	6503	129766719	SO:0001819	synonymous_variant	3908	exon40			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.5787C>T	6.37:g.129725026C>T			129766719	NM_001079823	Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	CCDS5138.1																																																																																				0.403	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		
ALDH8A1	64577	broad.mit.edu	37	6	135265094	135265094	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:135265094G>A	ENST00000265605.2	-	2	217	c.149C>T	c.(148-150)gCg>gTg	p.A50V	RP11-349J5.2_ENST00000416448.2_RNA|ALDH8A1_ENST00000367845.2_Missense_Mutation_p.A50V|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.A50V	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	50					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)	p.A50V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		GGCCTTGACCGCGGCTTCGAT	0.587																																					p.A50V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C149T	6						.						33.0	37.0	35.0					6																	135265094		2203	4300	6503	135306787	SO:0001583	missense	64577	exon2			AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"""Aldehyde dehydrogenases"""	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.149C>T	6.37:g.135265094G>A	ENSP00000265605:p.Ala50Val		135306787	NM_170771	B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP	ENST00000265605.2	37	CCDS5171.1	.	.	.	.	.	.	.	.	.	.	G	34	5.365254	0.95877	.	.	ENSG00000118514	ENST00000265605;ENST00000367845;ENST00000367847	D;D;T	0.82893	-1.66;-1.66;1.06	6.08	6.08	0.98989	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.92208	0.7529	M	0.86573	2.825	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.77004	0.989;0.982;0.989	D	0.92133	0.5714	10	0.87932	D	0	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	50;50;50	B7Z521;Q9H2A2-2;Q9H2A2	.;.;AL8A1_HUMAN	V	50	ENSP00000265605:A50V;ENSP00000356819:A50V;ENSP00000356821:A50V	ENSP00000265605:A50V	A	-	2	0	ALDH8A1	135306787	1.000000	0.71417	0.225000	0.23894	0.070000	0.16714	9.744000	0.98853	2.894000	0.99253	0.591000	0.81541	GCG		0.587	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042334.2		
BCLAF1	9774	broad.mit.edu	37	6	136596734	136596734	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:136596734C>A	ENST00000531224.1	-	6	2040	c.1788G>T	c.(1786-1788)caG>caT	p.Q596H	BCLAF1_ENST00000527759.1_Missense_Mutation_p.Q594H|BCLAF1_ENST00000527536.1_Missense_Mutation_p.Q596H|BCLAF1_ENST00000530767.1_Missense_Mutation_p.Q423H|BCLAF1_ENST00000353331.4_Missense_Mutation_p.Q594H|BCLAF1_ENST00000392348.2_Missense_Mutation_p.Q594H	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	596					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.Q596H(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTTTGCTGGCCTGTGGCAACT	0.393																																					p.Q596H	Colon(142;1534 1789 5427 7063 28491)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1788T	6						.						209.0	190.0	196.0					6																	136596734		2203	4300	6503	136638427	SO:0001583	missense	9774	exon6			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1788G>T	6.37:g.136596734C>A	ENSP00000435210:p.Gln596His		136638427	NM_014739	A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076567	0.55753	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17;2.17	5.62	4.76	0.60689	.	0.203527	0.34777	N	0.003700	T	0.31670	0.0804	M	0.67700	2.07	0.80722	D	1	D;D;D;D	0.67145	0.994;0.996;0.994;0.972	D;D;D;P	0.80764	0.994;0.968;0.994;0.693	T	0.14117	-1.0484	10	0.87932	D	0	-7.088	10.6484	0.45634	0.0:0.7994:0.1313:0.0693	.	594;594;596;423	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	H	596;594;596;423;594;594;596	ENSP00000435210:Q596H;ENSP00000229446:Q594H;ENSP00000435441:Q596H;ENSP00000436501:Q423H;ENSP00000434826:Q594H;ENSP00000376159:Q594H;ENSP00000431734:Q596H	ENSP00000229446:Q594H	Q	-	3	2	BCLAF1	136638427	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.084000	0.50143	1.527000	0.49086	-0.363000	0.07495	CAG		0.393	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739	
PHACTR2	9749	broad.mit.edu	37	6	144095200	144095200	+	Silent	SNP	T	T	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:144095200T>G	ENST00000427704.2	+	8	1534	c.1404T>G	c.(1402-1404)gcT>gcG	p.A468A	PHACTR2_ENST00000367582.3_Silent_p.A399A|PHACTR2_ENST00000367584.4_Silent_p.A456A|PHACTR2_ENST00000440869.2_Silent_p.A479A|PHACTR2_ENST00000305766.6_Silent_p.A388A	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	468							protein phosphatase inhibitor activity (GO:0004864)	p.A388A(1)|p.A479A(1)		NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		CCTCAGGTGCTTTGGCAAGTA	0.448																																					p.A399A	Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T1197G	6						.						66.0	61.0	62.0					6																	144095200		1867	4095	5962	144136893	SO:0001819	synonymous_variant	9749	exon7			AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"""Phosphatase and actin regulators"""	20956	protein-coding gene	gene with protein product		608724	"""chromosome 6 open reading frame 56"""	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.1404T>G	6.37:g.144095200T>G			144136893	NM_001100165	A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Silent	SNP	ENST00000427704.2	37	CCDS47492.1																																																																																				0.448	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042528.2	NM_014721	
CCDC170	80129	broad.mit.edu	37	6	151917595	151917595	+	Silent	SNP	G	G	A	rs3757321	byFrequency	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:151917595G>A	ENST00000239374.7	+	9	1692	c.1593G>A	c.(1591-1593)gcG>gcA	p.A531A	CCDC170_ENST00000367290.5_Silent_p.A531A	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	531								p.A531A(2)									GGGACAACGCGCATCTTACCA	0.552													G|||	32	0.00638978	0.0053	0.0014	5008	,	,		17256	0.0228		0.0	False		,,,				2504	0.001				p.A531A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1593A	6						.	G		18,4296		0,18,2139	87.0	96.0	93.0		1593	3.7	0.0	6	dbSNP_107	93	1,8517		0,1,4258	no	coding-synonymous	C6orf97	NM_025059.3		0,19,6397	AA,AG,GG		0.0117,0.4172,0.1481		531/716	151917595	19,12813	2157	4259	6416	151959288	SO:0001819	synonymous_variant	80129	exon9			AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.1593G>A	6.37:g.151917595G>A			151959288	NM_025059	Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Silent	SNP	ENST00000239374.7	37	CCDS43515.1																																																																																				0.552	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059	
SYNE1	23345	broad.mit.edu	37	6	152462343	152462343	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:152462343G>A	ENST00000367255.5	-	139	25842	c.25241C>T	c.(25240-25242)aCg>aTg	p.T8414M	SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Missense_Mutation_p.T592M|SYNE1_ENST00000539504.1_Missense_Mutation_p.T569M|SYNE1_ENST00000265368.4_Missense_Mutation_p.T8414M|SYNE1_ENST00000341594.5_Missense_Mutation_p.T8026M|SYNE1_ENST00000356820.4_Missense_Mutation_p.T2938M|SYNE1_ENST00000423061.1_Missense_Mutation_p.T8366M|SYNE1_ENST00000448038.1_Missense_Mutation_p.T8366M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8414					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.T8414M(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)		CTCACCAGCCGTTTGGGTTTC	0.478										HNSCC(10;0.0054)																											p.T2938M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C8813T	6						.						173.0	149.0	157.0					6																	152462343		2203	4300	6503	152504036	SO:0001583	missense	23345	exon54			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.25241C>T	6.37:g.152462343G>A	ENSP00000356224:p.Thr8414Met		152504036	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	.	.	.	.	.	.	.	.	.	.	G	14.84	2.654955	0.47467	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.56611	0.54;4.6;1.45;0.53;0.45;0.53;0.66;2.56;1.61;4.6	5.84	3.13	0.36017	.	0.113562	0.39759	N	0.001275	T	0.57504	0.2058	M	0.70595	2.14	0.40467	D	0.980307	D;D;D;D;P	0.89917	1.0;1.0;1.0;1.0;0.918	P;P;D;D;B	0.68621	0.855;0.855;0.959;0.912;0.39	T	0.60193	-0.7311	10	0.48119	T	0.1	.	11.5613	0.50778	0.1857:0.0:0.8143:0.0	.	8414;8414;8366;8366;616	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	M	8414;569;1060;8366;8414;8366;8026;2938;599;594;1359;592	ENSP00000356224:T8414M;ENSP00000441052:T569M;ENSP00000356226:T1060M;ENSP00000396024:T8366M;ENSP00000265368:T8414M;ENSP00000390975:T8366M;ENSP00000341887:T8026M;ENSP00000349276:T2938M;ENSP00000356220:T1359M;ENSP00000346701:T592M	ENSP00000265368:T8414M	T	-	2	0	SYNE1	152504036	1.000000	0.71417	0.886000	0.34754	0.287000	0.27160	3.615000	0.54167	0.391000	0.25143	-1.008000	0.02478	ACG		0.478	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152770770	152770770	+	Silent	SNP	A	A	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:152770770A>C	ENST00000367255.5	-	28	4003	c.3402T>G	c.(3400-3402)tcT>tcG	p.S1134S	SYNE1_ENST00000265368.4_Silent_p.S1134S|SYNE1_ENST00000413186.2_Silent_p.S1134S|SYNE1_ENST00000341594.5_Silent_p.S1200S|SYNE1_ENST00000367248.3_Silent_p.S1124S|SYNE1_ENST00000367253.4_Silent_p.S1134S|SYNE1_ENST00000423061.1_Silent_p.S1141S|SYNE1_ENST00000448038.1_Silent_p.S1141S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1134					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.S1134S(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)		ATGAGAACTCAGAGAATCTGA	0.378										HNSCC(10;0.0054)																											p.S1141S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T3423G	6						.						85.0	81.0	83.0					6																	152770770		2203	4300	6503	152812463	SO:0001819	synonymous_variant	23345	exon28			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.3402T>G	6.37:g.152770770A>C			152812463	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	CCDS5236.2																																																																																				0.378	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
TULP4	56995	broad.mit.edu	37	6	158915800	158915800	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:158915800C>T	ENST00000367097.3	+	11	3149	c.1792C>T	c.(1792-1794)Cag>Tag	p.Q598*	TULP4_ENST00000367094.2_Nonsense_Mutation_p.Q598*	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	598					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q598*(1)		endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CTATCTTGCTCAGGTCACGTC	0.403																																					p.Q598X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1792T	6						.						123.0	110.0	114.0					6																	158915800		2203	4300	6503	158835788	SO:0001587	stop_gained	56995	exon11				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.1792C>T	6.37:g.158915800C>T	ENSP00000356064:p.Gln598*		158835788	NM_001007466	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Nonsense_Mutation	SNP	ENST00000367097.3	37	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	C	51	17.413690	0.99886	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-29.8126	19.534	0.95242	0.0:1.0:0.0:0.0	.	.	.	.	X	598	.	ENSP00000356061:Q598X	Q	+	1	0	TULP4	158835788	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.236000	0.78154	2.613000	0.88420	0.655000	0.94253	CAG		0.403	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245	
TUBB2A	7280	broad.mit.edu	37	6	3154153	3154153	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:3154153C>T	ENST00000333628.3	-	4	1344	c.1282G>A	c.(1282-1284)Gcc>Acc	p.A428T	TUBB2A_ENST00000489942.1_5'Flank|RP1-40E16.11_ENST00000447644.1_RNA	NM_001069.2	NP_001060.1	Q13885	TBB2A_HUMAN	tubulin, beta 2A class IIa	428					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.A428T(1)		endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				TCGGCCGTGGCGTCCTGGTAC	0.572																																					p.A428T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1282A	6						.						99.0	81.0	87.0					6																	3154153		2203	4297	6500	3099152	SO:0001583	missense	7280	exon4			AY159127	CCDS4484.1	6p25.2	2012-10-02	2011-10-10	2005-11-03	ENSG00000137267	ENSG00000137267		"""Tubulins"""	12412	protein-coding gene	gene with protein product	"""class IIa beta-tubulin"""	615101	"""tubulin, beta polypeptide"", ""tubulin, beta 2"", ""tubulin, beta 2A"""	TUBB, TUBB2		14574404	Standard	NM_001069		Approved	dJ40E16.7	uc003mvc.3	Q13885	OTTHUMG00000014135	ENST00000333628.3:c.1282G>A	6.37:g.3154153C>T	ENSP00000369703:p.Ala428Thr		3099152	NM_001069	Q6FGZ8|Q8IWR2	Missense_Mutation	SNP	ENST00000333628.3	37	CCDS4484.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.737358	0.49045	.	.	ENSG00000137267	ENST00000333628;ENST00000392362	T	0.72167	-0.63	4.96	4.96	0.65561	Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.53938	U	0.000054	T	0.78635	0.4314	M	0.79475	2.455	0.80722	D	1	P;P;D	0.69078	0.733;0.468;0.997	B;B;P	0.56434	0.226;0.117;0.798	T	0.82246	-0.0552	10	0.87932	D	0	.	18.563	0.91107	0.0:1.0:0.0:0.0	.	428;428;428	B2R6L0;Q13885;Q8N6N5	.;TBB2A_HUMAN;.	T	428;338	ENSP00000369703:A428T	ENSP00000369703:A428T	A	-	1	0	TUBB2A	3099152	1.000000	0.71417	0.997000	0.53966	0.904000	0.53231	7.662000	0.83803	2.468000	0.83385	0.555000	0.69702	GCC		0.572	TUBB2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039662.1	NM_001069	
DSP	1832	broad.mit.edu	37	6	7579570	7579570	+	Silent	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:7579570G>A	ENST00000379802.3	+	23	3488	c.3147G>A	c.(3145-3147)tcG>tcA	p.S1049S	DSP_ENST00000418664.2_Silent_p.S1049S	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1049	Globular 1.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.S1049S(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATGCCAACTCGGAAAACTGTA	0.448																																					p.S1049S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3147A	6						.						41.0	46.0	44.0					6																	7579570		2203	4300	6503	7524569	SO:0001819	synonymous_variant	1832	exon23			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.3147G>A	6.37:g.7579570G>A			7524569	NM_001008844	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	CCDS4501.1																																																																																				0.448	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415	
HDGFL1	154150	broad.mit.edu	37	6	22570498	22570498	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:22570498G>T	ENST00000230012.3	+	1	821	c.694G>T	c.(694-696)Gag>Tag	p.E232*	HDGFL1_ENST00000510882.2_Nonsense_Mutation_p.E232*	NM_138574.2	NP_612641.2	Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	232	Glu-rich.							p.E232*(1)		kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					AGTCGCGGACGAGGAGGCCTC	0.697																																					p.E232X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G694T	6						.						6.0	9.0	8.0					6																	22570498		2135	4209	6344	22678477	SO:0001587	stop_gained	154150	exon1			AK056824	CCDS34347.1	6p22.2	2008-02-05	2005-04-07	2005-04-07	ENSG00000112273	ENSG00000112273			21095	protein-coding gene	gene with protein product			"""PWWP domain containing 1"""	PWWP1			Standard	NM_138574		Approved	dJ309H15.1	uc003nds.3	Q5TGJ6	OTTHUMG00000016206	ENST00000230012.3:c.694G>T	6.37:g.22570498G>T	ENSP00000230012:p.Glu232*		22678477	NM_138574	Q96MJ6	Nonsense_Mutation	SNP	ENST00000230012.3	37	CCDS34347.1	.	.	.	.	.	.	.	.	.	.	G	9.629	1.135936	0.21123	.	.	ENSG00000112273	ENST00000230012;ENST00000510882	.	.	.	0.63	-1.26	0.09376	.	0.923140	0.08758	U	0.898140	.	.	.	.	.	.	0.50467	A	0.999879	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	.	.	.	.	.	.	.	X	232	.	ENSP00000230012:E232X	E	+	1	0	HDGFL1	22678477	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-1.392000	0.02523	-1.157000	0.02815	-0.450000	0.05554	GAG		0.697	HDGFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043500.1	NM_138574	
GPLD1	2822	broad.mit.edu	37	6	24445775	24445775	+	Splice_Site	SNP	G	G	A	rs140430161	byFrequency	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:24445775G>A	ENST00000230036.1	-	20	2129	c.2019C>T	c.(2017-2019)taC>taT	p.Y673Y		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	673					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.Y673Y(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GTGACCTACCGTACGTAGGGG	0.502													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19294	0.0		0.0	False		,,,				2504	0.0				p.Y673Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2019T	6						.	G		1,4405	2.1+/-5.4	0,1,2202	137.0	101.0	113.0		2019	-9.4	0.0	6	dbSNP_134	113	0,8600		0,0,4300	yes	coding-synonymous-near-splice	GPLD1	NM_001503.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		673/841	24445775	1,13005	2203	4300	6503	24553754	SO:0001630	splice_region_variant	2822	exon20			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.2020+1C>T	6.37:g.24445775G>A			24553754	NM_001503	Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Silent	SNP	ENST00000230036.1	37	CCDS4553.1																																																																																				0.502	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503	Silent
GPLD1	2822	broad.mit.edu	37	6	24454354	24454354	+	Silent	SNP	G	G	A	rs1062500		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:24454354G>A	ENST00000230036.1	-	14	1334	c.1224C>T	c.(1222-1224)ccC>ccT	p.P408P		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	408					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.P408P(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GGATGTGGCCGGGGCGGCTGT	0.632																																					p.P408P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1224T	6						.						79.0	64.0	69.0					6																	24454354		2203	4300	6503	24562333	SO:0001819	synonymous_variant	2822	exon14			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.1224C>T	6.37:g.24454354G>A			24562333	NM_001503	Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Silent	SNP	ENST00000230036.1	37	CCDS4553.1																																																																																				0.632	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503	
HFE	3077	broad.mit.edu	37	6	26087735	26087735	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:26087735C>T	ENST00000357618.5	+	1	189	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C	HFE_ENST00000336625.8_Missense_Mutation_p.R23C|HFE_ENST00000317896.7_Missense_Mutation_p.R23C|HFE_ENST00000309234.6_Missense_Mutation_p.R23C|HFE_ENST00000397022.3_Missense_Mutation_p.R23C|HFE_ENST00000349999.4_Missense_Mutation_p.R23C|HFE_ENST00000488199.1_Missense_Mutation_p.R23C|HFE_ENST00000470149.1_Missense_Mutation_p.R23C|HFE_ENST00000353147.5_Missense_Mutation_p.R23C|HFE_ENST00000461397.1_Missense_Mutation_p.R23C|HFE_ENST00000352392.4_Missense_Mutation_p.R23C	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	23	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular iron ion homeostasis (GO:0006879)|cellular response to iron ion starvation (GO:0010106)|female pregnancy (GO:0007565)|hormone biosynthetic process (GO:0042446)|immune response (GO:0006955)|iron ion import into cell (GO:0097459)|multicellular organismal iron ion homeostasis (GO:0060586)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein complex assembly (GO:0006461)	apical part of cell (GO:0045177)|basal part of cell (GO:0045178)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|MHC class I protein complex (GO:0042612)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	peptide antigen binding (GO:0042605)|receptor binding (GO:0005102)	p.R23C(1)		endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTGCAGGGGCGCTTGCTGCG	0.627									Hemochromatosis																												p.R23C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C67T	6						.						31.0	39.0	36.0					6																	26087735		2202	4299	6501	26195714	SO:0001583	missense	3077	exon1	Familial Cancer Database			CCDS4578.1, CCDS4579.1, CCDS4580.1, CCDS4581.1, CCDS4582.1, CCDS47386.1, CCDS47387.1, CCDS54974.1, CCDS54975.1, CCDS75412.1	6p21.3	2014-09-17			ENSG00000010704	ENSG00000010704		"""Immunoglobulin superfamily / C1-set domain containing"""	4886	protein-coding gene	gene with protein product	"""high Fe"""	613609				3460331	Standard	XR_241893		Approved	HLA-H	uc003nfx.1	Q30201	OTTHUMG00000016348	ENST00000357618.5:c.67C>T	6.37:g.26087735C>T	ENSP00000417404:p.Arg23Cys		26195714	NM_139008	B2CKL0|O75929|O75930|O75931|Q17RT0|Q96KU5|Q96KU6|Q96KU7|Q96KU8|Q9HC64|Q9HC68|Q9HC70|Q9HC83	Missense_Mutation	SNP	ENST00000357618.5	37	CCDS4578.1	.	.	.	.	.	.	.	.	.	.	c	22.4	4.287548	0.80803	.	.	ENSG00000010704	ENST00000352392;ENST00000349999;ENST00000397022;ENST00000317896;ENST00000353147;ENST00000535098;ENST00000357618;ENST00000470149;ENST00000336625;ENST00000461397;ENST00000488199;ENST00000309234	D;T;D;T;T;T;T;T;T;T;T	0.90133	-2.27;5.73;-2.62;4.76;4.23;5.89;5.91;4.74;5.67;5.39;5.89	4.96	1.74	0.24563	.	2.113290	0.03126	N	0.164446	D	0.88426	0.6433	N	0.19112	0.55	0.09310	N	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.998;0.998;0.998;1.0;0.998;0.998;1.0	D;D;D;P;P;P;D;P;P;D	0.83275	0.993;0.911;0.911;0.855;0.796;0.796;0.996;0.855;0.796;0.99	T	0.80482	-0.1363	10	0.72032	D	0.01	.	12.808	0.57624	0.0:0.4107:0.5893:0.0	.	23;23;23;23;23;23;23;23;23;23	Q6B0J5;Q96KU6;Q30201-6;Q30201-4;Q30201-7;Q30201-10;Q30201-3;Q30201-2;Q30201-5;Q30201	.;.;.;.;.;.;.;.;.;HFE_HUMAN	C	23	ENSP00000315936:R23C;ENSP00000259699:R23C;ENSP00000380217:R23C;ENSP00000313776:R23C;ENSP00000312342:R23C;ENSP00000417404:R23C;ENSP00000419725:R23C;ENSP00000337819:R23C;ENSP00000420802:R23C;ENSP00000420559:R23C;ENSP00000311698:R23C	ENSP00000311698:R23C	R	+	1	0	HFE	26195714	0.028000	0.19301	0.001000	0.08648	0.621000	0.37620	1.024000	0.30077	0.550000	0.28991	0.651000	0.88453	CGC		0.627	HFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356133.1		
HIST1H2BF	8343	broad.mit.edu	37	6	26200053	26200053	+	Silent	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:26200053C>A	ENST00000359985.1	+	1	306	c.267C>A	c.(265-267)acC>acA	p.T89T	HIST1H3D_ENST00000356476.2_5'Flank|HIST1H2AD_ENST00000341023.1_5'Flank|HIST1H3D_ENST00000377831.5_5'Flank	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	89					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.T89T(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				AGCGCTCCACCATCACCTCCA	0.617																																					p.T89T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C267A	6						.						100.0	100.0	100.0					6																	26200053		2203	4300	6503	26308032	SO:0001819	synonymous_variant	8343	exon1			Z80779	CCDS4592.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197846	ENSG00000277224		"""Histones / Replication-dependent"""	4752	protein-coding gene	gene with protein product		602804	"""H2B histone family, member G"", ""histone 1, H2bf"""	H2BFG		9119399, 12408966	Standard	NM_003522		Approved	H2B/g	uc003ngx.3	P62807	OTTHUMG00000014445	ENST00000359985.1:c.267C>A	6.37:g.26200053C>A			26308032	NM_003522	P02278|Q3B872|Q4VB69|Q93078|Q93080	Silent	SNP	ENST00000359985.1	37	CCDS4592.1																																																																																				0.617	HIST1H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040108.1	NM_003522	
HIST1H2BK	85236	broad.mit.edu	37	6	27114300	27114300	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:27114300C>T	ENST00000356950.1	-	1	277	c.278G>A	c.(277-279)aGg>aAg	p.R93K	HIST1H2AH_ENST00000377459.1_5'Flank|HIST1H2BK_ENST00000396891.4_Missense_Mutation_p.R93K|MIR3143_ENST00000584253.1_RNA			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	93					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CTGGATCTCCCTGGAGGTGAT	0.622																																					p.R93K												.	.	0			c.G278A	6						.						63.0	69.0	67.0					6																	27114300		2203	4296	6499	27222279	SO:0001583	missense	85236	exon1			AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"""Histones / Replication-dependent"""	13954	protein-coding gene	gene with protein product		615045	"""H2B histone family, member T"", ""histone 1, H2bk"""	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.278G>A	6.37:g.27114300C>T	ENSP00000349430:p.Arg93Lys		27222279	NM_080593	A8K7P7|Q2VPI7	Missense_Mutation	SNP	ENST00000356950.1	37	CCDS4621.1	.	.	.	.	.	.	.	.	.	.	.	24.2	4.507991	0.85282	.	.	ENSG00000197903	ENST00000396891;ENST00000356950	T;T	0.50001	0.76;0.76	3.82	3.82	0.43975	Histone-fold (2);Histone core (1);	0.000000	0.36066	U	0.002820	T	0.59878	0.2226	H	0.95884	3.735	0.43259	D	0.995197	B	0.33135	0.399	B	0.42163	0.378	T	0.72007	-0.4420	10	0.66056	D	0.02	.	14.0417	0.64678	0.0:1.0:0.0:0.0	.	93	O60814	H2B1K_HUMAN	K	93	ENSP00000380100:R93K;ENSP00000349430:R93K	ENSP00000349430:R93K	R	-	2	0	HIST1H2BK	27222279	1.000000	0.71417	0.914000	0.36105	0.981000	0.71138	5.115000	0.64655	2.080000	0.62538	0.650000	0.86243	AGG		0.622	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040141.1	NM_080593	
PRSS16	10279	broad.mit.edu	37	6	27219657	27219657	+	Silent	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:27219657G>A	ENST00000230582.3	+	8	861	c.846G>A	c.(844-846)gcG>gcA	p.A282A	PRSS16_ENST00000421826.2_Intron|PRSS16_ENST00000377456.2_3'UTR	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	282					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)	p.A282A(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						AAAACCAGGCGGAGCTGTTGG	0.687																																					p.A282A	NSCLC(178;1118 2105 17078 23587 44429)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G846A	6						.						16.0	20.0	19.0					6																	27219657		2183	4274	6457	27327636	SO:0001819	synonymous_variant	10279	exon8			AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"""Serine peptidases / Serine peptidases"""	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.846G>A	6.37:g.27219657G>A			27327636	NM_005865	O75416	Silent	SNP	ENST00000230582.3	37	CCDS4623.1																																																																																				0.687	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2		
GPX6	257202	broad.mit.edu	37	6	28472133	28472133	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:28472133T>G	ENST00000361902.1	-	5	651	c.602A>C	c.(601-603)cAg>cCg	p.Q201P	GPX6_ENST00000483058.1_5'Flank|GPX6_ENST00000474923.1_Silent_p.R168R	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	201					response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)	p.Q201P(1)		NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	GACTGGAGCCTGGTGGAACCA	0.512																																					p.Q201P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A602C	6						.						144.0	136.0	138.0					6																	28472133		2024	4219	6243	28580112	SO:0001583	missense	257202	exon5				CCDS43432.1	6p22.1	2012-03-01			ENSG00000198704	ENSG00000198704	1.11.1.9		4558	protein-coding gene	gene with protein product		607913	"""glutathione peroxidase pseudogene 3"""	GPXP3			Standard	NM_182701		Approved		uc021yrx.1	P59796	OTTHUMG00000044828	ENST00000361902.1:c.602A>C	6.37:g.28472133T>G	ENSP00000354581:p.Gln201Pro		28580112	NM_182701	Q4PJ17	Missense_Mutation	SNP	ENST00000361902.1	37	CCDS43432.1	.	.	.	.	.	.	.	.	.	.	T	11.13	1.547324	0.27652	.	.	ENSG00000198704	ENST00000361902	T	0.03772	3.81	4.4	-7.88	0.01178	Thioredoxin-like fold (2);	1.096880	0.06846	N	0.796470	T	0.01222	0.0040	L	0.41079	1.255	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.42207	-0.9465	10	0.34782	T	0.22	.	10.176	0.42939	0.0:0.2164:0.1013:0.6823	.	201	P59796	GPX6_HUMAN	P	201	ENSP00000354581:Q201P	ENSP00000354581:Q201P	Q	-	2	0	GPX6	28580112	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.159000	0.16442	-1.717000	0.01385	-0.798000	0.03219	CAG		0.512	GPX6-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000104340.1		
GPX5	2880	broad.mit.edu	37	6	28497345	28497345	+	Missense_Mutation	SNP	G	G	A	rs376708612		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:28497345G>A	ENST00000412168.2	+	2	294	c.205G>A	c.(205-207)Gtg>Atg	p.V69M	GPX5_ENST00000442674.2_3'UTR|GPX6_ENST00000483058.1_5'Flank|GPX5_ENST00000469384.1_Missense_Mutation_p.V69M	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	69					lipid metabolic process (GO:0006629)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)	p.V69M(1)		endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	CTTCGTCAACGTGGCCACCTA	0.418																																					p.V69M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G205A	6						.	G	MET/VAL,MET/VAL	0,4406		0,0,2203	146.0	116.0	127.0		205,205	3.7	1.0	6		127	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GPX5	NM_001509.2,NM_003996.3	21,21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	69/222,69/101	28497345	1,13005	2203	4300	6503	28605324	SO:0001583	missense	2880	exon2			AJ005277	CCDS4652.1, CCDS4653.1	6p22.1	2008-02-05			ENSG00000224586	ENSG00000224586	1.11.1.9		4557	protein-coding gene	gene with protein product		603435				9639555	Standard	NM_001509		Approved		uc003nll.2	O75715	OTTHUMG00000016307	ENST00000412168.2:c.205G>A	6.37:g.28497345G>A	ENSP00000392398:p.Val69Met		28605324	NM_003996	A1A4Y0	Missense_Mutation	SNP	ENST00000412168.2	37	CCDS4652.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749988	0.69533	0.0	1.16E-4	ENSG00000224586	ENST00000412168;ENST00000469384	T;T	0.16897	2.31;2.31	3.72	3.72	0.42706	Thioredoxin-like fold (2);	0.157062	0.41823	D	0.000814	T	0.51702	0.1690	H	0.98426	4.23	0.49582	D	0.999806	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.70784	-0.4778	10	0.87932	D	0	-11.7519	13.7855	0.63108	0.0:0.0:1.0:0.0	.	69;69	A1A4Y0;O75715	.;GPX5_HUMAN	M	69	ENSP00000392398:V69M;ENSP00000419935:V69M	ENSP00000392398:V69M	V	+	1	0	GPX5	28605324	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.881000	0.63114	2.331000	0.79229	0.655000	0.94253	GTG		0.418	GPX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043672.2		
OR12D2	26529	broad.mit.edu	37	6	29365268	29365268	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:29365268G>T	ENST00000383555.2	+	1	853	c.792G>T	c.(790-792)gaG>gaT	p.E264D	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E264D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						CTGCGTTAGAGAGCTTCATGG	0.458																																					p.E264D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G792T	6						.						200.0	201.0	200.0					6																	29365268		1511	2708	4219	29473247	SO:0001583	missense	26529	exon1				CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"""GPCR / Class A : Olfactory receptors"""	8178	protein-coding gene	gene with protein product			"""olfactory receptor, family 12, subfamily D, member 2"""				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.792G>T	6.37:g.29365268G>T	ENSP00000373047:p.Glu264Asp		29473247	NM_013936	B0S862|Q5SUN9|Q6IET9	Missense_Mutation	SNP	ENST00000383555.2	37	CCDS4659.1	.	.	.	.	.	.	.	.	.	.	G	1.174	-0.639982	0.03557	.	.	ENSG00000168787	ENST00000383555	T	0.00158	8.65	3.94	-3.67	0.04476	GPCR, rhodopsin-like superfamily (1);	0.948502	0.08763	N	0.897428	T	0.00039	0.0001	N	0.10760	0.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.02126	-1.1209	10	0.41790	T	0.15	.	7.6661	0.28432	0.0:0.3268:0.3395:0.3337	.	264	P58182	O12D2_HUMAN	D	264	ENSP00000373047:E264D	ENSP00000373047:E264D	E	+	3	2	OR12D2	29473247	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.316000	0.02710	-0.789000	0.04498	0.205000	0.17691	GAG		0.458	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076054.2		
DDR1	780	broad.mit.edu	37	6	30866949	30866949	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:30866949C>T	ENST00000324771.8	+	20	3166	c.2618C>T	c.(2617-2619)cCg>cTg	p.P873L	DDR1_ENST00000418800.2_Missense_Mutation_p.P836L|DDR1_ENST00000454612.2_Missense_Mutation_p.P836L|DDR1_ENST00000513240.1_Missense_Mutation_p.P879L|DDR1_ENST00000376569.3_Missense_Mutation_p.P836L|DDR1_ENST00000452441.1_Missense_Mutation_p.P873L|DDR1_ENST00000508312.1_Missense_Mutation_p.P854L|DDR1_ENST00000376575.3_Missense_Mutation_p.P879L|DDR1_ENST00000376567.2_Missense_Mutation_p.P836L|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376570.4_Missense_Mutation_p.P836L|DDR1_ENST00000361741.4_Intron|DDR1_ENST00000376568.3_Missense_Mutation_p.P873L			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	873	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P835L(1)|p.P879L(1)		central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CTGTCCCGGCCGCCTGCCTGC	0.587																																					p.P873L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2618T	6						.						87.0	89.0	88.0					6																	30866949		2203	4300	6503	30974928	SO:0001583	missense	780	exon19			X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.2618C>T	6.37:g.30866949C>T	ENSP00000318217:p.Pro873Leu		30974928	NM_013993	B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Missense_Mutation	SNP	ENST00000324771.8	37	CCDS34385.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972256	0.74246	.	.	ENSG00000204580	ENST00000324771;ENST00000418800;ENST00000454612;ENST00000376569;ENST00000376575;ENST00000376570;ENST00000376568;ENST00000452441;ENST00000508312;ENST00000376567;ENST00000513240;ENST00000484556	D;D;D;D;D;D;D;D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11	5.0	5.0	0.66597	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	0.93363	0.7884	M	0.87682	2.9	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.993;0.999	D	0.94449	0.7665	10	0.87932	D	0	.	15.8064	0.78517	0.0:1.0:0.0:0.0	.	854;879;873	B7Z2K0;Q08345-5;Q08345	.;.;DDR1_HUMAN	L	873;836;836;836;879;836;873;873;854;836;879;269	ENSP00000318217:P873L;ENSP00000407699:P836L;ENSP00000406091:P836L;ENSP00000365753:P836L;ENSP00000365759:P879L;ENSP00000365754:P836L;ENSP00000365752:P873L;ENSP00000405039:P873L;ENSP00000422442:P854L;ENSP00000365751:P836L;ENSP00000427552:P879L	ENSP00000318217:P873L	P	+	2	0	DDR1	30974928	1.000000	0.71417	0.969000	0.41365	0.940000	0.58332	7.234000	0.78134	2.324000	0.78689	0.467000	0.42956	CCG		0.587	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994	
HSPA1L	3305	broad.mit.edu	37	6	31779137	31779137	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:31779137C>A	ENST00000375654.4	-	2	802	c.613G>T	c.(613-615)Ggc>Tgc	p.G205C	HSPA1L_ENST00000417199.3_Missense_Mutation_p.G205C	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	205					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)	p.G205C(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TCAAATGTGCCTCCACCCAGA	0.483																																					p.G205C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G613T	6						.						97.0	89.0	92.0					6																	31779137		2203	4300	6503	31887116	SO:0001583	missense	3305	exon2			D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.613G>T	6.37:g.31779137C>A	ENSP00000364805:p.Gly205Cys		31887116	NM_005527	A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.672226	0.67928	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653;ENST00000424494	T;T	0.01527	4.8;4.8	5.04	5.04	0.67666	Heat shock protein 70, conserved site (1);	0.000000	0.34156	N	0.004208	T	0.21801	0.0525	H	0.99975	5.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57136	-0.7863	10	0.87932	D	0	-16.9834	15.9032	0.79400	0.0:1.0:0.0:0.0	.	205	P34931	HS71L_HUMAN	C	205;205;150;95	ENSP00000364805:G205C;ENSP00000387691:G205C	ENSP00000364804:G150C	G	-	1	0	HSPA1L	31887116	1.000000	0.71417	0.994000	0.49952	0.970000	0.65996	7.647000	0.83462	2.606000	0.88127	0.585000	0.79938	GGC		0.483	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2		
TAP1	6890	broad.mit.edu	37	6	32813560	32813560	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:32813560C>T	ENST00000354258.4	-	11	2384	c.2223G>A	c.(2221-2223)gtG>gtA	p.V741V	PSMB8_ENST00000374881.2_5'Flank|TAPSAR1_ENST00000453426.1_lincRNA|TAP1_ENST00000425148.2_Silent_p.V480V|PSMB8_ENST00000374882.3_5'Flank|PSMB8_ENST00000395339.3_5'Flank|PSMB9_ENST00000395330.1_Intron	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	741	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|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)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)	p.V741V(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	GGAGCTGCTCCACCTGAGGAA	0.607																																					p.V741V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2223A	6						.						36.0	33.0	34.0					6																	32813560		1509	2708	4217	32921538	SO:0001819	synonymous_variant	6890	exon11				CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"""ATP binding cassette transporters / subfamily B"""	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.2223G>A	6.37:g.32813560C>T			32921538	NM_000593	Q16149|Q96CP4	Silent	SNP	ENST00000354258.4	37	CCDS4758.1																																																																																				0.607	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2	NM_000593	
SLC39A7	7922	broad.mit.edu	37	6	33170180	33170180	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:33170180G>A	ENST00000374677.3	+	4	1148	c.775G>A	c.(775-777)Gga>Aga	p.G259R	HSD17B8_ENST00000374662.3_5'Flank|SLC39A7_ENST00000463972.1_3'UTR|RXRB_ENST00000544186.1_5'Flank|RNY4P10_ENST00000365571.1_RNA|SLC39A7_ENST00000374675.3_Missense_Mutation_p.G259R|RXRB_ENST00000413614.2_5'Flank|RXRB_ENST00000374680.3_5'Flank|RXRB_ENST00000374685.4_5'Flank	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	259	His-rich.				transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)	p.G259R(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TCATACACGTGGAAGTCATGG	0.493																																					p.G259R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G775A	6						.						133.0	139.0	137.0					6																	33170180		1380	2614	3994	33278158	SO:0001583	missense	7922	exon4			AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"""Solute carriers"""	4927	protein-coding gene	gene with protein product		601416	"""HLA class II region expressed gene KE4"""	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.775G>A	6.37:g.33170180G>A	ENSP00000363809:p.Gly259Arg		33278158	NM_006979	B0UXF6|Q5STP8|Q9UIQ0	Missense_Mutation	SNP	ENST00000374677.3	37	CCDS43453.1	.	.	.	.	.	.	.	.	.	.	G	9.037	0.988683	0.18966	.	.	ENSG00000112473	ENST00000444757;ENST00000374675;ENST00000446283;ENST00000445037;ENST00000374677	T;T;T	0.60299	0.85;0.2;0.2	4.24	4.24	0.50183	.	0.770342	0.11621	N	0.545758	T	0.47488	0.1448	L	0.28556	0.865	0.24052	N	0.996048	D;B	0.76494	0.999;0.139	D;B	0.70487	0.969;0.054	T	0.28744	-1.0034	10	0.14656	T	0.56	-5.9645	12.3248	0.55005	0.0:0.0:1.0:0.0	.	240;259	B4DVK8;Q92504	.;S39A7_HUMAN	R	169;259;240;164;259	ENSP00000400978:G169R;ENSP00000363807:G259R;ENSP00000363809:G259R	ENSP00000363807:G259R	G	+	1	0	SLC39A7	33278158	0.932000	0.31603	0.896000	0.35187	0.530000	0.34684	2.359000	0.44142	2.372000	0.80975	0.549000	0.68633	GGA		0.493	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076499.2	NM_006979	
ITPR3	3710	broad.mit.edu	37	6	33662848	33662848	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:33662848G>A	ENST00000374316.5	+	58	8993	c.7933G>A	c.(7933-7935)Gag>Aag	p.E2645K	ITPR3_ENST00000605930.1_Missense_Mutation_p.E2645K			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2645					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.E2645K(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CCAGCTCAACGAGCTCAAGGA	0.612																																					p.E2645K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7933A	6						.						82.0	57.0	65.0					6																	33662848		2203	4300	6503	33770826	SO:0001583	missense	3710	exon57			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.7933G>A	6.37:g.33662848G>A	ENSP00000363435:p.Glu2645Lys		33770826	NM_002224	Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	36	5.793987	0.96952	.	.	ENSG00000096433	ENST00000374316	T	0.43294	0.95	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.68751	0.3035	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.75096	-0.3438	10	0.87932	D	0	-44.0905	19.7706	0.96363	0.0:0.0:1.0:0.0	.	2645	Q14573	ITPR3_HUMAN	K	2645	ENSP00000363435:E2645K	ENSP00000363435:E2645K	E	+	1	0	ITPR3	33770826	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	9.790000	0.99075	2.697000	0.92050	0.655000	0.94253	GAG		0.612	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224	
CPNE5	57699	broad.mit.edu	37	6	36789932	36789932	+	Silent	SNP	G	G	A	rs374183584		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:36789932G>A	ENST00000244751.2	-	3	765	c.141C>T	c.(139-141)tgC>tgT	p.C47C		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	47	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)		p.C47C(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TATACATGACGCACACTGCGG	0.577																																					p.C47C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C141T	6						.	G		0,4388		0,0,2194	101.0	51.0	68.0		141	-1.3	1.0	6		68	1,8551		0,1,4275	no	coding-synonymous	CPNE5	NM_020939.1		0,1,6469	AA,AG,GG		0.0117,0.0,0.0077		47/594	36789932	1,12939	2194	4276	6470	36897910	SO:0001819	synonymous_variant	57699	exon3			H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772			2318	protein-coding gene	gene with protein product		604209				9430674	Standard	NM_020939		Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.141C>T	6.37:g.36789932G>A			36897910	NM_020939	Q7Z6C8	Silent	SNP	ENST00000244751.2	37	CCDS4825.1																																																																																				0.577	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040351.1	NM_020939	
SAYSD1	55776	broad.mit.edu	37	6	39082786	39082786	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:39082786C>T	ENST00000229903.4	-	1	179	c.80G>A	c.(79-81)gGc>gAc	p.G27D	SAYSD1_ENST00000481599.1_5'UTR	NM_018322.1	NP_060792.1	Q9NPB0	SMDC1_HUMAN	SAYSVFN motif domain containing 1	27	Ala-rich.					cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)		p.G27D(1)									GGTTTGTGCGCCCTGACTGGC	0.662																																					p.G27D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G80A	6						.						25.0	27.0	26.0					6																	39082786		2201	4300	6501	39190764	SO:0001583	missense	55776	exon1			BC022007	CCDS4840.1	6p21.1	2011-12-13	2011-12-13	2011-12-13	ENSG00000112167	ENSG00000112167			21025	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 64"""	C6orf64			Standard	XM_005249222		Approved	FLJ11101	uc003ook.1	Q9NPB0	OTTHUMG00000014641	ENST00000229903.4:c.80G>A	6.37:g.39082786C>T	ENSP00000229903:p.Gly27Asp		39190764	NM_018322	Q9H0D8	Missense_Mutation	SNP	ENST00000229903.4	37	CCDS4840.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.391013	0.25118	.	.	ENSG00000112167	ENST00000229903	.	.	.	4.84	0.98	0.19750	.	0.872204	0.10067	N	0.720201	T	0.09686	0.0238	L	0.36672	1.1	0.09310	N	1	B	0.15141	0.012	B	0.14578	0.011	T	0.37478	-0.9704	9	0.11794	T	0.64	0.5698	4.5615	0.12163	0.0:0.4285:0.3075:0.264	.	27	Q9NPB0	CF064_HUMAN	D	27	.	ENSP00000229903:G27D	G	-	2	0	C6orf64	39190764	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.326000	0.19646	0.058000	0.16222	-0.251000	0.11542	GGC		0.662	SAYSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040448.1	NM_018322	
DAAM2	23500	broad.mit.edu	37	6	39869166	39869166	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:39869166C>T	ENST00000398904.2	+	24	3082	c.2900C>T	c.(2899-2901)gCc>gTc	p.A967V	RP11-61I13.3_ENST00000437947.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.A967V|DAAM2_ENST00000538976.1_Missense_Mutation_p.A966V			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	967	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)			p.A966V(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TTCTTGCAGGCCTTCTCAGAG	0.597																																					p.A966V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2897T	6						.						92.0	96.0	95.0					6																	39869166		2022	4180	6202	39977144	SO:0001583	missense	23500	exon24			AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.2900C>T	6.37:g.39869166C>T	ENSP00000381876:p.Ala967Val		39977144	NM_015345	G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	C	35	5.547586	0.96488	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.18016	2.24;2.24;2.24	5.5	5.5	0.81552	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.206543	0.41823	D	0.000816	T	0.29749	0.0743	M	0.67517	2.055	0.80722	D	1	D;D	0.71674	0.998;0.992	P;P	0.58721	0.844;0.802	T	0.02844	-1.1103	10	0.72032	D	0.01	.	18.9969	0.92817	0.0:1.0:0.0:0.0	.	966;967	G5EA45;Q86T65	.;DAAM2_HUMAN	V	967;967;966	ENSP00000274867:A967V;ENSP00000381876:A967V;ENSP00000437808:A966V	ENSP00000274867:A967V	A	+	2	0	DAAM2	39977144	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.745000	0.85046	2.578000	0.87016	0.655000	0.94253	GCC		0.597	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1		
LRFN2	57497	broad.mit.edu	37	6	40360338	40360338	+	Missense_Mutation	SNP	C	C	T	rs371754423		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:40360338C>T	ENST00000338305.6	-	3	2256	c.1714G>A	c.(1714-1716)Gtg>Atg	p.V572M		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	572						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.V572M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					ACATTGCTCACGGCCGCTGCC	0.687																																					p.V572M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1714A	6						.		MET/VAL	1,4405	2.1+/-5.4	0,1,2202	40.0	37.0	38.0		1714	5.4	0.9	6		38	0,8600		0,0,4300	no	missense	LRFN2	NM_020737.1	21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	572/790	40360338	1,13005	2203	4300	6503	40468316	SO:0001583	missense	57497	exon3			AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.1714G>A	6.37:g.40360338C>T	ENSP00000345985:p.Val572Met		40468316	NM_020737	A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	c	11.72	1.723105	0.30503	2.27E-4	0.0	ENSG00000156564	ENST00000338305	T	0.59638	0.25	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.40862	0.1134	L	0.58428	1.81	0.48901	D	0.999721	P	0.44090	0.826	B	0.32864	0.154	T	0.53676	-0.8405	10	0.54805	T	0.06	.	17.7543	0.88445	0.0:1.0:0.0:0.0	.	572	Q9ULH4	LRFN2_HUMAN	M	572	ENSP00000345985:V572M	ENSP00000345985:V572M	V	-	1	0	LRFN2	40468316	1.000000	0.71417	0.918000	0.36340	0.170000	0.22686	7.774000	0.85478	2.527000	0.85204	0.651000	0.88453	GTG		0.687	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372	
USP49	25862	broad.mit.edu	37	6	41773544	41773544	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:41773544C>T	ENST00000394253.3	-	3	1507	c.1178G>A	c.(1177-1179)cGc>cAc	p.R393H	USP49_ENST00000373009.3_Missense_Mutation_p.R393H|USP49_ENST00000373006.1_Missense_Mutation_p.R393H|USP49_ENST00000297229.2_Missense_Mutation_p.R393H|USP49_ENST00000373010.1_Missense_Mutation_p.R393H			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	393	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.R393H(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)			GTCGTAGCCGCGGAAGGCAGG	0.617																																					p.R393H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1178A	6						.						55.0	52.0	53.0					6																	41773544		2203	4300	6503	41881522	SO:0001583	missense	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.1178G>A	6.37:g.41773544C>T	ENSP00000377797:p.Arg393His		41881522	NM_018561	Q5T3D9|Q5T3E0|Q96CK4	Missense_Mutation	SNP	ENST00000394253.3	37		.	.	.	.	.	.	.	.	.	.	C	17.13	3.310915	0.60414	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.30978	0.0782	M	0.77103	2.36	0.80722	D	1	P	0.42161	0.772	B	0.40982	0.345	T	0.17349	-1.0372	10	0.45353	T	0.12	-11.4993	19.2213	0.93797	0.0:1.0:0.0:0.0	.	393	Q70CQ1-2	.	H	393	ENSP00000377797:R393H;ENSP00000362101:R393H;ENSP00000362100:R393H;ENSP00000362097:R393H;ENSP00000297229:R393H	ENSP00000297229:R393H	R	-	2	0	USP49	41881522	1.000000	0.71417	0.986000	0.45419	0.822000	0.46500	6.089000	0.71384	2.631000	0.89168	0.655000	0.94253	CGC		0.617	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561	
KLC4	89953	broad.mit.edu	37	6	43033394	43033394	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:43033394G>T	ENST00000394056.2	+	5	1021	c.526G>T	c.(526-528)Gat>Tat	p.D176Y	KLC4_ENST00000347162.5_Missense_Mutation_p.D176Y|KLC4_ENST00000458460.2_Missense_Mutation_p.D176Y|KLC4_ENST00000479388.1_Missense_Mutation_p.D176Y|KLC4_ENST00000394058.1_Missense_Mutation_p.D176Y|KLC4_ENST00000453940.2_Missense_Mutation_p.D99Y|KLC4_ENST00000259708.3_Missense_Mutation_p.D194Y			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	176						cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)	p.D176Y(1)		endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			GGATTCCCTGGATGACCTCTT	0.542																																					p.D176Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G526T	6						.						87.0	75.0	79.0					6																	43033394		2203	4300	6503	43141372	SO:0001583	missense	89953	exon4			AK055293	CCDS4882.1, CCDS4883.1, CCDS47429.1, CCDS75459.1	6p21.1	2013-01-10	2005-09-13	2005-09-13	ENSG00000137171	ENSG00000137171		"""Tetratricopeptide (TTC) repeat domain containing"""	21624	protein-coding gene	gene with protein product			"""kinesin-like 8"""	KNSL8			Standard	NM_001289034		Approved	bA387M24.3	uc003otw.1	Q9NSK0	OTTHUMG00000014720	ENST00000394056.2:c.526G>T	6.37:g.43033394G>T	ENSP00000377620:p.Asp176Tyr		43141372	NM_201521	B3KNY4|B3KPI3|B3KSQ3|B4DME9|Q66K28|Q96EG6	Missense_Mutation	SNP	ENST00000394056.2	37	CCDS4883.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.212376	0.79240	.	.	ENSG00000137171	ENST00000347162;ENST00000453940;ENST00000479632;ENST00000470728;ENST00000458460;ENST00000259708;ENST00000479388;ENST00000394056;ENST00000394058	T;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;0.84	4.63	4.63	0.57726	Rabaptin, GTPase-Rab5 binding (1);	0.234435	0.30085	N	0.010451	T	0.65668	0.2713	M	0.80982	2.52	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.998;0.999	T	0.70077	-0.4971	10	0.59425	D	0.04	-22.3666	17.3044	0.87191	0.0:0.0:1.0:0.0	.	99;194;176;176	B4DME9;Q9NSK0-3;Q9NSK0;Q96EG6	.;.;KLC4_HUMAN;.	Y	176;99;89;154;176;194;176;176;176	ENSP00000340221:D176Y;ENSP00000395806:D99Y;ENSP00000419784:D89Y;ENSP00000417652:D154Y;ENSP00000410358:D176Y;ENSP00000259708:D194Y;ENSP00000418031:D176Y;ENSP00000377620:D176Y;ENSP00000377622:D176Y	ENSP00000259708:D194Y	D	+	1	0	KLC4	43141372	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.336000	0.96533	2.430000	0.82344	0.456000	0.33151	GAT		0.542	KLC4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040579.2	NM_138343	
POLH	5429	broad.mit.edu	37	6	43565442	43565442	+	Missense_Mutation	SNP	G	G	A	rs201365711		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:43565442G>A	ENST00000372236.4	+	5	795	c.500G>A	c.(499-501)cGa>cAa	p.R167Q	POLH_ENST00000535400.1_Missense_Mutation_p.R105Q|POLH_ENST00000372226.1_Missense_Mutation_p.R167Q	NM_006502.2	NP_006493.1	O75417	DPOLQ_HUMAN	polymerase (DNA directed), eta	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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.R167Q(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			GAGGGGATGCGAAAACAAGGC	0.373								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum				G|||	1	0.000199681	0.0008	0.0	5008	,	,		17777	0.0		0.0	False		,,,				2504	0.0				p.R167Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G500A	6						.						86.0	82.0	84.0					6																	43565442		2203	4300	6503	43673420	SO:0001583	missense	5429	exon5	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	AB024313	CCDS4902.1	6p21	2014-09-17			ENSG00000170734	ENSG00000170734			9181	protein-coding gene	gene with protein product		603968				10385124, 10398605	Standard	NM_006502		Approved	RAD30A, XP-V	uc003ovq.4	Q9Y253	OTTHUMG00000014743	ENST00000372236.4:c.500G>A	6.37:g.43565442G>A	ENSP00000361310:p.Arg167Gln		43673420	NM_006502	O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000372236.4	37	CCDS4902.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	21.2	4.119561	0.77323	.	.	ENSG00000170734	ENST00000372236;ENST00000535400;ENST00000372226	T;T;T	0.70869	-0.52;-0.52;-0.52	5.41	5.41	0.78517	DNA-repair protein, UmuC-like, N-terminal (1);DNA-repair protein, UmuC-like (1);	0.068784	0.64402	D	0.000015	T	0.66694	0.2815	L	0.55481	1.735	0.80722	D	1	D;D	0.60575	0.985;0.988	P;P	0.50570	0.644;0.627	T	0.64202	-0.6463	10	0.29301	T	0.29	-11.9391	18.0253	0.89266	0.0:0.0:1.0:0.0	.	105;167	B4DG64;Q9Y253	.;POLH_HUMAN	Q	167;105;167	ENSP00000361310:R167Q;ENSP00000442102:R105Q;ENSP00000361300:R167Q	ENSP00000361300:R167Q	R	+	2	0	POLH	43673420	1.000000	0.71417	0.960000	0.40013	0.392000	0.30506	8.969000	0.93411	2.548000	0.85928	0.472000	0.43445	CGA		0.373	POLH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040666.1	NM_006502	
PKHD1	5314	broad.mit.edu	37	6	51882257	51882257	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:51882257C>T	ENST00000371117.3	-	34	5826	c.5551G>A	c.(5551-5553)Gat>Aat	p.D1851N	PKHD1_ENST00000340994.4_Missense_Mutation_p.D1851N	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1851					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.D1851N(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)					GCCCAATGATCTGGCACAAAG	0.488																																					p.D1851N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5551A	6						.						162.0	144.0	150.0					6																	51882257		2203	4300	6503	51990216	SO:0001583	missense	5314	exon34			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.5551G>A	6.37:g.51882257C>T	ENSP00000360158:p.Asp1851Asn		51990216	NM_170724	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066428	0.36470	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87179	-2.02;-2.22	5.63	4.74	0.60224	.	0.633514	0.15703	N	0.248856	T	0.71375	0.3332	L	0.56769	1.78	0.09310	N	1	B;B	0.18610	0.029;0.013	B;B	0.17433	0.018;0.01	T	0.59490	-0.7445	10	0.22109	T	0.4	.	8.5993	0.33734	0.1531:0.7692:0.0:0.0777	.	1851;1851	P08F94-2;P08F94	.;PKHD1_HUMAN	N	1851	ENSP00000360158:D1851N;ENSP00000341097:D1851N	ENSP00000341097:D1851N	D	-	1	0	PKHD1	51990216	0.002000	0.14202	0.037000	0.18230	0.615000	0.37417	1.044000	0.30329	1.451000	0.47736	0.655000	0.94253	GAT		0.488	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
HMGCLL1	54511	broad.mit.edu	37	6	55304334	55304334	+	Silent	SNP	G	G	A	rs186128280	byFrequency	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:55304334G>A	ENST00000398661.2	-	9	1040	c.909C>T	c.(907-909)tcC>tcT	p.S303S	HMGCLL1_ENST00000507223.1_5'UTR|HMGCLL1_ENST00000308161.4_Silent_p.S241S|HMGCLL1_ENST00000370850.2_Silent_p.S170S|HMGCLL1_ENST00000508459.1_Silent_p.S107S|HMGCLL1_ENST00000274901.4_Silent_p.S273S	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	303					ketone body biosynthetic process (GO:0046951)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|metal ion binding (GO:0046872)	p.S303S(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			CGGATACTGCGGAGTCCACCA	0.423													g|||	15	0.00299521	0.0113	0.0	5008	,	,		18280	0.0		0.0	False		,,,				2504	0.0				p.S303S	Ovarian(35;840 893 7837 15538 42887)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C909T	6						.		,	24,3732		0,24,1854	95.0	89.0	91.0		819,909	-5.9	1.0	6		91	1,8199		0,1,4099	no	coding-synonymous,coding-synonymous	HMGCLL1	NM_001042406.1,NM_019036.2	,	0,25,5953	AA,AG,GG		0.0122,0.639,0.2091	,	273/341,303/371	55304334	25,11931	1878	4100	5978	55412293	SO:0001819	synonymous_variant	54511	exon9			AK055075	CCDS43474.1, CCDS43475.1, CCDS75472.1, CCDS75473.1	6p12.1	2010-04-30	2010-04-30		ENSG00000146151	ENSG00000146151			21359	protein-coding gene	gene with protein product			"""3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1"""			8619474, 9110174	Standard	NM_001042406		Approved	DKFZP434G1411, bA418P12.1	uc003pcn.3	Q8TB92	OTTHUMG00000014902	ENST00000398661.2:c.909C>T	6.37:g.55304334G>A			55412293	NM_019036	B1AQ42|B3KNV0|B7Z1S7|F8W793|Q6ZSA9	Silent	SNP	ENST00000398661.2	37	CCDS43475.1																																																																																				0.423	HMGCLL1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360290.1	XM_166383	
COL21A1	81578	broad.mit.edu	37	6	56033064	56033064	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:56033064C>T	ENST00000244728.5	-	6	1455	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H	COL21A1_ENST00000535941.1_Missense_Mutation_p.R353H|COL21A1_ENST00000370819.1_Missense_Mutation_p.R353H	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	353	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.R353H(3)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TACTAAGAGACGAATTTGGTG	0.348																																					p.R353H												.	.	3	Substitution - Missense(3)	lung(2)|large_intestine(1)	c.G1058A	6						.						61.0	54.0	56.0					6																	56033064		1833	4092	5925	56141023	SO:0001583	missense	81578	exon6			AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.1058G>A	6.37:g.56033064C>T	ENSP00000244728:p.Arg353His		56141023	NM_030820	A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	37	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.305395	0.60305	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	T;T;T	0.02085	4.46;4.46;4.46	5.35	5.35	0.76521	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.64402	D	0.000015	T	0.04048	0.0113	L	0.35723	1.085	0.80722	D	1	D;D	0.76494	0.999;0.998	P;P	0.62014	0.897;0.791	T	0.60469	-0.7257	10	0.41790	T	0.15	.	19.0707	0.93134	0.0:1.0:0.0:0.0	.	353;353	Q96P44-3;Q96P44	.;COLA1_HUMAN	H	353	ENSP00000244728:R353H;ENSP00000359855:R353H;ENSP00000444384:R353H	ENSP00000244728:R353H	R	-	2	0	COL21A1	56141023	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.701000	0.61810	2.506000	0.84524	0.655000	0.94253	CGT		0.348	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2		
COL21A1	81578	broad.mit.edu	37	6	56044835	56044835	+	Missense_Mutation	SNP	C	C	A	rs199696799		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	A	Unknown	Valid	Germline	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:56044835C>A	ENST00000244728.5	-	3	578	c.181G>T	c.(181-183)Gtc>Ttc	p.V61F	COL21A1_ENST00000535941.1_Missense_Mutation_p.V61F|COL21A1_ENST00000370819.1_Missense_Mutation_p.V61F	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	61	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GTGATATTGACAAGCCACTTT	0.408																																					p.V61F												.	.	0			c.G181T	6						.						33.0	33.0	33.0					6																	56044835		1821	4085	5906	56152794	SO:0001583	missense	81578	exon3			AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.181G>T	6.37:g.56044835C>A	ENSP00000244728:p.Val61Phe		56152794	NM_030820	A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	37	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.815831	0.50527	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811;ENST00000370817	D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79	4.47	3.61	0.41365	von Willebrand factor, type A (3);	0.114949	0.36972	N	0.002313	D	0.82614	0.5075	L	0.59436	1.845	0.80722	D	1	D;D	0.55385	0.959;0.971	P;P	0.58780	0.734;0.845	D	0.83416	0.0030	10	0.51188	T	0.08	.	12.8949	0.58093	0.0:0.9201:0.0:0.0799	.	61;61	Q96P44-3;Q96P44	.;COLA1_HUMAN	F	61	ENSP00000244728:V61F;ENSP00000359855:V61F;ENSP00000444384:V61F;ENSP00000359853:V61F	ENSP00000244728:V61F	V	-	1	0	COL21A1	56152794	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	4.702000	0.61817	1.000000	0.39049	-0.143000	0.13931	GTC		0.408	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2		
DST	667	broad.mit.edu	37	6	56480950	56480950	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:56480950C>G	ENST00000370765.6	-	24	7422	c.7315G>C	c.(7315-7317)Gtc>Ctc	p.V2439L	DST_ENST00000370769.4_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1738					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.V2439L(2)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTCTTGGGGACTAACCGGCTC	0.463																																					p.V2439L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G7315C	6						.						86.0	83.0	84.0					6																	56480950		2203	4300	6503	56588909	SO:0001583	missense	667	exon24			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.7315G>C	6.37:g.56480950C>G	ENSP00000359801:p.Val2439Leu		56588909	NM_001723	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000370765.6	37	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	C	2.088	-0.409109	0.04799	.	.	ENSG00000151914	ENST00000370765	T	0.67698	-0.28	5.87	3.14	0.36123	.	.	.	.	.	T	0.15046	0.0363	.	.	.	0.22034	N	0.999402	B	0.25904	0.137	B	0.24269	0.052	T	0.16276	-1.0408	7	0.02654	T	1	.	4.4887	0.11803	0.0:0.4571:0.1683:0.3746	.	2439	Q03001-3	.	L	2439	ENSP00000359801:V2439L	ENSP00000359801:V2439L	V	-	1	0	DST	56588909	0.002000	0.14202	0.199000	0.23439	0.582000	0.36321	1.072000	0.30678	0.832000	0.34804	0.650000	0.86243	GTC		0.463	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723	
ZNF451	26036	broad.mit.edu	37	6	57012793	57012793	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:57012793G>C	ENST00000370706.4	+	10	2154	c.1910G>C	c.(1909-1911)aGc>aCc	p.S637T	RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.S637T|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.S637T|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000586466.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	637					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.S637T(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CATAGATACAGCTGTGCTCAC	0.398																																					p.S637T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1910C	6						.						86.0	87.0	86.0					6																	57012793		2202	4298	6500	57120752	SO:0001583	missense	26036	exon10			AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.1910G>C	6.37:g.57012793G>C	ENSP00000359740:p.Ser637Thr		57120752	NM_015555	Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	G	7.700	0.692898	0.15039	.	.	ENSG00000112200	ENST00000370706;ENST00000357489;ENST00000491832	T;T;T	0.18502	2.23;2.21;2.21	5.13	5.13	0.70059	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.340961	0.35013	N	0.003505	T	0.10809	0.0264	M	0.67953	2.075	0.80722	D	1	P;P;B;P	0.39782	0.688;0.467;0.088;0.467	B;B;B;B	0.34138	0.176;0.084;0.035;0.084	T	0.03175	-1.1064	10	0.38643	T	0.18	-6.9001	14.5639	0.68162	0.0:0.2688:0.7312:0.0	.	637;637;637;637	Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;ZN451_HUMAN;.;.	T	637	ENSP00000359740:S637T;ENSP00000350083:S637T;ENSP00000421645:S637T	ENSP00000350083:S637T	S	+	2	0	ZNF451	57120752	0.992000	0.36948	1.000000	0.80357	0.953000	0.61014	3.578000	0.53892	2.541000	0.85698	0.557000	0.71058	AGC		0.398	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555	
COL12A1	1303	broad.mit.edu	37	6	75892915	75892915	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:75892915C>T	ENST00000322507.8	-	10	2051	c.1742G>A	c.(1741-1743)cGc>cAc	p.R581H	COL12A1_ENST00000483888.2_Missense_Mutation_p.R581H|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.R581H	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	581	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.			R -> D (in Ref. 4; AAC01506). {ECO:0000305}.	cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.R581H(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CAATTCTGAGCGAACGGCATC	0.438																																					p.R581H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1742A	6						.						114.0	107.0	109.0					6																	75892915		1936	4140	6076	75949635	SO:0001583	missense	1303	exon10			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.1742G>A	6.37:g.75892915C>T	ENSP00000325146:p.Arg581His		75949635	NM_004370	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.348671	0.82132	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	D;D;D	0.83163	-1.69;-1.69;-1.69	5.56	5.56	0.83823	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000002	D	0.88522	0.6459	L	0.55213	1.73	0.48185	D	0.999609	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88336	0.2971	10	0.66056	D	0.02	.	19.8835	0.96906	0.0:1.0:0.0:0.0	.	581;581	D6RGG3;Q99715	.;COCA1_HUMAN	H	581	ENSP00000325146:R581H;ENSP00000412864:R581H;ENSP00000421216:R581H	ENSP00000325146:R581H	R	-	2	0	COL12A1	75949635	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.880000	0.69698	2.777000	0.95525	0.655000	0.94253	CGC		0.438	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	
TTK	7272	broad.mit.edu	37	6	80744830	80744830	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:80744830C>A	ENST00000369798.2	+	15	1854	c.1743C>A	c.(1741-1743)caC>caA	p.H581Q	TTK_ENST00000230510.3_Missense_Mutation_p.H580Q|TTK_ENST00000509894.1_Missense_Mutation_p.H580Q	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	581	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.H565Q(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TACAACAACACAGTGATAAGA	0.269																																					p.H580Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1740A	6						.						76.0	81.0	79.0					6																	80744830		2197	4287	6484	80801549	SO:0001583	missense	7272	exon15				CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.1743C>A	6.37:g.80744830C>A	ENSP00000358813:p.His581Gln		80801549	NM_001166691	A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.329619	0.41297	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.73047	-0.71;-0.71;-0.71	5.67	1.97	0.26223	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.047685	0.85682	D	0.000000	T	0.71492	0.3346	M	0.66560	2.04	0.44067	D	0.996816	D;D	0.76494	0.999;0.999	D;D	0.71414	0.973;0.973	T	0.71961	-0.4434	10	0.54805	T	0.06	.	8.6396	0.33970	0.0:0.6244:0.0:0.3756	.	581;580	P33981;A8K8U5	TTK_HUMAN;.	Q	580;580;581	ENSP00000422936:H580Q;ENSP00000230510:H580Q;ENSP00000358813:H581Q	ENSP00000230510:H580Q	H	+	3	2	TTK	80801549	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.798000	0.27014	0.357000	0.24183	0.557000	0.71058	CAC		0.269	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2		
TBX18	9096	broad.mit.edu	37	6	85446703	85446703	+	Silent	SNP	G	G	A	rs114400107		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:85446703G>A	ENST00000369663.5	-	8	1861	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	508					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.F508F(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GGTTAGTGGCGAAGGCATTGC	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		19335	0.001		0.0	False		,,,				2504	0.0				p.F508F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1524T	6						.	G		0,4406		0,0,2203	152.0	163.0	159.0		1524	-0.1	1.0	6	dbSNP_132	159	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TBX18	NM_001080508.1		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		508/608	85446703	2,13004	2203	4300	6503	85503422	SO:0001819	synonymous_variant	9096	exon8			AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1524C>T	6.37:g.85446703G>A			85503422	NM_001080508	A2RU13|Q7Z6U4|Q9UJI6	Silent	SNP	ENST00000369663.5	37	CCDS34495.1																																																																																				0.507	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508	
CGA	1081	broad.mit.edu	37	6	87796012	87796012	+	Missense_Mutation	SNP	C	C	T	rs145503313		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:87796012C>T	ENST00000369582.2	-	3	329	c.229G>A	c.(229-231)Gtc>Atc	p.V77I	RN7SKP209_ENST00000516888.1_RNA	NM_000735.3	NP_000726.1	P01215	GLHA_HUMAN	glycoprotein hormones, alpha polypeptide	77					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|cellular response to hormone stimulus (GO:0032870)|developmental growth (GO:0048589)|follicle-stimulating hormone secretion (GO:0046884)|gonad development (GO:0008406)|luteinizing hormone secretion (GO:0032275)|negative regulation of organ growth (GO:0046621)|peptide hormone processing (GO:0016486)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.V77I(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)		BRCA - Breast invasive adenocarcinoma(108;0.0484)		TCTGAGGTGACGTTCTTTTGG	0.483																																					p.V77I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G229A	6						.	C	ILE/VAL	0,4406		0,0,2203	196.0	192.0	193.0		229	4.3	0.9	6	dbSNP_134	193	1,8599	1.2+/-3.3	0,1,4299	no	missense	CGA	NM_000735.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	77/117	87796012	1,13005	2203	4300	6503	87852731	SO:0001583	missense	1081	exon3			V00518	CCDS5007.1, CCDS75492.1	6q14-q21	2013-02-26			ENSG00000135346	ENSG00000135346		"""Endogenous ligands"""	1885	protein-coding gene	gene with protein product	"""follicle-stimulating hormone alpha subunit"", ""chorionic gonadotropin, alpha polypeptide"", ""luteinizing hormone alpha chain"", ""lutropin alpha chain"", ""thyroid-stimulating hormone alpha chain"", ""glycoprotein hormones alpha chain"""	118850				6286817	Standard	NM_000735		Approved	HCG, GPHa, GPHA1, FSHA, LHA, TSHA	uc021zci.1	P01215	OTTHUMG00000015161	ENST00000369582.2:c.229G>A	6.37:g.87796012C>T	ENSP00000358595:p.Val77Ile		87852731	NM_000735		Missense_Mutation	SNP	ENST00000369582.2	37	CCDS5007.1	.	.	.	.	.	.	.	.	.	.	C	0.161	-1.080860	0.01888	0.0	1.16E-4	ENSG00000135346	ENST00000369582	.	.	.	5.62	4.35	0.52113	.	0.046039	0.85682	N	0.000000	T	0.02230	0.0069	N	0.00339	-1.615	0.29560	N	0.850677	B	0.15930	0.015	B	0.18561	0.022	T	0.44298	-0.9337	9	0.02654	T	1	-21.153	10.3843	0.44129	0.0:0.0853:0.0:0.9147	.	77	P01215	GLHA_HUMAN	I	77	.	ENSP00000358595:V77I	V	-	1	0	CGA	87852731	1.000000	0.71417	0.900000	0.35374	0.001000	0.01503	4.616000	0.61197	0.838000	0.34948	-0.225000	0.12378	GTC		0.483	CGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041425.1	NM_000735	
MDN1	23195	broad.mit.edu	37	6	90402602	90402602	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:90402602G>A	ENST00000369393.3	-	63	10262	c.10147C>T	c.(10147-10149)Cgg>Tgg	p.R3383W	MDN1_ENST00000428876.1_Missense_Mutation_p.R3383W			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3383					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.R3383W(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGCCGCTTCCGGAACTGGTGG	0.582																																					p.R3383W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C10147T	6						.						54.0	50.0	51.0					6																	90402602		2203	4300	6503	90459323	SO:0001583	missense	23195	exon63			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.10147C>T	6.37:g.90402602G>A	ENSP00000358400:p.Arg3383Trp		90459323	NM_014611	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.656629	0.47467	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03212	4.01;4.01	5.14	-0.232	0.13082	.	0.154478	0.50627	D	0.000118	T	0.05823	0.0152	M	0.75447	2.3	0.35250	D	0.77864	D	0.76494	0.999	P	0.56088	0.791	T	0.05500	-1.0881	10	0.38643	T	0.18	.	15.7597	0.78070	0.0:0.0:0.6127:0.3873	.	3383	Q9NU22	MDN1_HUMAN	W	3383	ENSP00000358400:R3383W;ENSP00000413970:R3383W	ENSP00000358400:R3383W	R	-	1	2	MDN1	90459323	1.000000	0.71417	0.961000	0.40146	0.960000	0.62799	0.799000	0.27028	-0.228000	0.09869	0.491000	0.48974	CGG		0.582	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
FAM120B	84498	broad.mit.edu	37	6	170667360	170667360	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr6:170667360C>T	ENST00000476287.1	+	6	2345	c.2237C>T	c.(2236-2238)gCc>gTc	p.A746V	FAM120B_ENST00000252510.9_Missense_Mutation_p.A78V|FAM120B_ENST00000540480.1_Missense_Mutation_p.A758V|FAM120B_ENST00000537664.1_Missense_Mutation_p.A769V	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	746					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.A746V(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		ATTGCGCAGGCCTTGTGCCTC	0.493																																					p.A746V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2237T	6						.						103.0	78.0	86.0					6																	170667360		2203	4300	6503	170509285	SO:0001583	missense	84498	exon6			AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.2237C>T	6.37:g.170667360C>T	ENSP00000417970:p.Ala746Val		170509285	NM_032448	B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	37	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.005518	0.35415	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287;ENST00000252510	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	4.5	4.5	0.54988	.	0.320832	0.33327	N	0.005032	T	0.29158	0.0725	M	0.62266	1.93	0.38232	D	0.941065	P;P	0.39181	0.663;0.607	B;B	0.33196	0.159;0.12	T	0.19745	-1.0296	10	0.32370	T	0.25	-8.9124	14.4596	0.67440	0.0:1.0:0.0:0.0	.	746;746	Q96EK7;F2Z2E1	F120B_HUMAN;.	V	758;769;746;78	ENSP00000444125:A758V;ENSP00000440125:A769V;ENSP00000417970:A746V;ENSP00000252510:A78V	ENSP00000252510:A78V	A	+	2	0	FAM120B	170509285	1.000000	0.71417	0.923000	0.36655	0.365000	0.29674	1.718000	0.38001	2.216000	0.71823	0.655000	0.94253	GCC		0.493	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448	
CDHR3	222256	broad.mit.edu	37	7	105660938	105660938	+	Silent	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr7:105660938A>G	ENST00000317716.9	+	13	1853	c.1773A>G	c.(1771-1773)acA>acG	p.T591T	CDHR3_ENST00000542731.1_Silent_p.T591T|CDHR3_ENST00000478080.1_Silent_p.T503T|CDHR3_ENST00000343407.5_Intron|CDHR3_ENST00000470188.1_Intron	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	591	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.T591T(1)		breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						TCAAGCTGACATGTACCGACC	0.458																																					p.T591T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1773G	7						.						143.0	126.0	131.0					7																	105660938		1879	4122	6001	105448174	SO:0001819	synonymous_variant	222256	exon13			AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"""Cadherins / Cadherin-related"""	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.1773A>G	7.37:g.105660938A>G			105448174	NM_152750	Q8TCI7	Silent	SNP	ENST00000317716.9	37	CCDS47684.1	.	.	.	.	.	.	.	.	.	.	G	9.407	1.079424	0.20227	.	.	ENSG00000128536	ENST00000468477	.	.	.	5.55	-1.3	0.09259	.	.	.	.	.	T	0.41190	0.1148	.	.	.	0.46336	D	0.998995	.	.	.	.	.	.	T	0.23940	-1.0174	4	.	.	.	-1.5922	2.0559	0.03581	0.3954:0.2094:0.2886:0.1066	.	.	.	.	R	60	.	.	H	+	2	0	CDHR3	105448174	0.002000	0.14202	0.861000	0.33841	0.993000	0.82548	-0.721000	0.04963	-0.509000	0.06532	-0.119000	0.15052	CAT		0.458	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349025.2	NM_152750	
TES	26136	broad.mit.edu	37	7	115892392	115892392	+	Silent	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr7:115892392T>C	ENST00000358204.4	+	6	1154	c.939T>C	c.(937-939)taT>taC	p.Y313Y	AC073130.3_ENST00000444244.1_RNA|AC002066.1_ENST00000446355.2_RNA|TES_ENST00000537767.1_Silent_p.Y71Y|TES_ENST00000393481.2_Silent_p.Y304Y	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	313	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.Y313Y(1)		endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			GCAATGAGTATACCCAGGCAG	0.373																																					p.Y313Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T939C	7						.						82.0	77.0	79.0					7																	115892392		2203	4300	6503	115679628	SO:0001819	synonymous_variant	26136	exon6			AJ250865	CCDS5763.1, CCDS5764.1	7q31.2	2004-04-20			ENSG00000135269	ENSG00000135269			14620	protein-coding gene	gene with protein product		606085				10950921	Standard	NM_015641		Approved	DKFZP586B2022, TESS-2, TESTIN	uc003vho.3	Q9UGI8	OTTHUMG00000023092	ENST00000358204.4:c.939T>C	7.37:g.115892392T>C			115679628	NM_015641	A4D0U6|Q9GZQ1|Q9HAJ9	Silent	SNP	ENST00000358204.4	37	CCDS5763.1	.	.	.	.	.	.	.	.	.	.	T	10.03	1.238032	0.22711	.	.	ENSG00000135269	ENST00000393484	.	.	.	5.76	-5.33	0.02713	.	.	.	.	.	T	0.65026	0.2652	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66834	-0.5823	4	.	.	.	-27.2987	16.0682	0.80903	0.0:0.6026:0.0:0.3974	.	.	.	.	T	100	.	.	I	+	2	0	TES	115679628	0.988000	0.35896	0.926000	0.36857	0.999000	0.98932	0.251000	0.18257	-0.921000	0.03794	0.533000	0.62120	ATA		0.373	TES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059413.2	NM_015641	
KCND2	3751	broad.mit.edu	37	7	119915154	119915154	+	Silent	SNP	C	C	T	rs149119940		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr7:119915154C>T	ENST00000331113.4	+	1	1433	c.468C>T	c.(466-468)acC>acT	p.T156T		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	156					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.T156T(2)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	ATACCGACACCGCTGGGGAGA	0.622																																					p.T156T												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.C468T	7						.	C		0,4406		0,0,2203	72.0	73.0	73.0		468	0.1	0.0	7	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KCND2	NM_012281.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		156/631	119915154	1,13005	2203	4300	6503	119702390	SO:0001819	synonymous_variant	3751	exon1			AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.468C>T	7.37:g.119915154C>T			119702390	NM_012281	O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	ENST00000331113.4	37	CCDS5776.1																																																																																				0.622	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281	
GCC1	79571	broad.mit.edu	37	7	127223086	127223086	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr7:127223086T>C	ENST00000321407.2	-	2	1734	c.1310A>G	c.(1309-1311)gAg>gGg	p.E437G	GCC1_ENST00000497650.1_5'UTR	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	437					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.E437G(1)		breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CTTCAGCTTCTCCATCTTATC	0.552																																					p.E437G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1310G	7						.						103.0	107.0	106.0					7																	127223086		2203	4300	6503	127010322	SO:0001583	missense	79571	exon2			AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.1310A>G	7.37:g.127223086T>C	ENSP00000318821:p.Glu437Gly		127010322	NM_024523	Q9H6N7	Missense_Mutation	SNP	ENST00000321407.2	37	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	T	18.85	3.711225	0.68730	.	.	ENSG00000179562	ENST00000321407	T	0.12774	2.65	5.12	5.12	0.69794	.	0.111734	0.64402	D	0.000013	T	0.23572	0.0570	L	0.51422	1.61	0.58432	D	0.99999	D	0.60575	0.988	P	0.54815	0.761	T	0.00645	-1.1629	10	0.66056	D	0.02	-30.437	11.6314	0.51178	0.0:0.0:0.0:1.0	.	437	Q96CN9	GCC1_HUMAN	G	437	ENSP00000318821:E437G	ENSP00000318821:E437G	E	-	2	0	GCC1	127010322	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	5.438000	0.66550	2.058000	0.61347	0.533000	0.62120	GAG		0.552	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523	
CALU	813	broad.mit.edu	37	7	128394502	128394502	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr7:128394502C>T	ENST00000249364.4	+	3	510	c.408C>T	c.(406-408)taC>taT	p.Y136Y	CALU_ENST00000535623.1_Silent_p.Y144Y|CALU_ENST00000479257.1_Silent_p.Y144Y|CALU_ENST00000538546.1_Intron|CALU_ENST00000535011.2_Silent_p.Y136Y|CALU_ENST00000542996.2_Intron|CALU_ENST00000449187.2_Intron	NM_001219.4	NP_001210.1	O43852	CALU_HUMAN	calumenin	136	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.Y136Y(1)		kidney(2)|large_intestine(3)|lung(5)	10						CCTACGGCTACGTTTTAGGTA	0.478																																					p.Y136Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C408T	7						.						81.0	73.0	76.0					7																	128394502		2203	4300	6503	128181738	SO:0001819	synonymous_variant	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.408C>T	7.37:g.128394502C>T			128181738	NM_001219	B3KPG9|D6QS48|D6QS49|D6QS50|D6QS51|D6QS52|D6QS53|D6QS54|D6QS55|D6QS56|D6QS57|D6QS58|D6QS59|F5H1Q9|F5H879|O60456|Q6FHB9|Q96RL3|Q9NR43	Silent	SNP	ENST00000249364.4	37	CCDS5805.1																																																																																				0.478	CALU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350533.1	NM_001219	
ZC3HC1	51530	broad.mit.edu	37	7	129664310	129664310	+	Silent	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr7:129664310T>C	ENST00000358303.4	-	7	897	c.813A>G	c.(811-813)acA>acG	p.T271T	RP11-306G20.1_ENST00000587038.1_RNA|ZC3HC1_ENST00000481503.1_Intron|ZC3HC1_ENST00000311873.5_Silent_p.T250T|RNA5SP245_ENST00000364239.1_RNA|RP11-306G20.1_ENST00000480018.1_RNA|ZC3HC1_ENST00000360708.5_Silent_p.T271T	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	271			T -> A (in dbSNP:rs1464890). {ECO:0000269|PubMed:15489334}.		mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein ubiquitination (GO:0016567)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.T271T(1)		endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					ATTGCGAACATGTTATCAGGG	0.463																																					p.T271T	Melanoma(115;540 1606 16325 28853 48167)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A813G	7						.						72.0	66.0	68.0					7																	129664310		2203	4300	6503	129451546	SO:0001819	synonymous_variant	51530	exon7			AF151050	CCDS34753.1, CCDS64767.1, CCDS75659.1	7q32.2	2013-01-17			ENSG00000091732	ENSG00000091732		"""Zinc fingers, C3HC-type"""	29913	protein-coding gene	gene with protein product	"""nuclear interaction partner of ALK"""					11042152	Standard	XM_005250403		Approved	NIPA	uc003vpi.3	Q86WB0	OTTHUMG00000157648	ENST00000358303.4:c.813A>G	7.37:g.129664310T>C			129451546	NM_016478	A6NH66|Q75MF3|Q75MF4|Q8N330|Q96F75|Q9HA34|Q9NVX4|Q9P0R0	Silent	SNP	ENST00000358303.4	37	CCDS34753.1																																																																																				0.463	ZC3HC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349316.1	NM_016478	
CPA1	1357	broad.mit.edu	37	7	130023582	130023582	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr7:130023582A>G	ENST00000011292.3	+	6	793	c.643A>G	c.(643-645)Atc>Gtc	p.I215V	CPA1_ENST00000484324.1_Missense_Mutation_p.I127V	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	215					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.I215V(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					CACCTTGGACATCTTCCTGGA	0.612																																					p.I215V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A643G	7						.						195.0	165.0	175.0					7																	130023582		2203	4300	6503	129810818	SO:0001583	missense	1357	exon6				CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase A"""	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.643A>G	7.37:g.130023582A>G	ENSP00000011292:p.Ile215Val		129810818	NM_001868	A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Missense_Mutation	SNP	ENST00000011292.3	37	CCDS5820.1	.	.	.	.	.	.	.	.	.	.	A	14.96	2.691109	0.48097	.	.	ENSG00000091704	ENST00000011292;ENST00000476062;ENST00000484324	T;T;T	0.04015	3.73;3.73;3.73	5.27	4.08	0.47627	Peptidase M14, carboxypeptidase A (2);	0.045123	0.85682	N	0.000000	T	0.07503	0.0189	M	0.64630	1.985	0.58432	D	0.999999	B;B	0.14805	0.011;0.007	B;B	0.25140	0.058;0.054	T	0.09400	-1.0676	10	0.45353	T	0.12	.	9.4245	0.38572	0.9178:0.0:0.0822:0.0	.	127;215	B4DDW9;P15085	.;CBPA1_HUMAN	V	215;127;127	ENSP00000011292:I215V;ENSP00000419408:I127V;ENSP00000419497:I127V	ENSP00000011292:I215V	I	+	1	0	CPA1	129810818	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	6.741000	0.74837	0.911000	0.36747	0.459000	0.35465	ATC		0.612	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349736.2	NM_001868	
CEP41	95681	broad.mit.edu	37	7	130041780	130041780	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr7:130041780T>C	ENST00000223208.5	-	8	854	c.584A>G	c.(583-585)tAc>tGc	p.Y195C	CEP41_ENST00000343969.5_Missense_Mutation_p.Y195C|CEP41_ENST00000541543.1_Missense_Mutation_p.Y179C	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	195	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein polyglutamylation (GO:0018095)|protein transport (GO:0015031)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|primary cilium (GO:0072372)		p.Y195C(1)									TGCAATTGGGTAACTGTAAGC	0.348																																					p.Y195C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A584G	7						.						92.0	88.0	89.0					7																	130041780		2203	4300	6503	129829016	SO:0001583	missense	95681	exon8			AJ278890	CCDS5821.1, CCDS59078.1, CCDS59079.1, CCDS59080.1	7q32	2014-02-20	2011-10-04	2011-10-04	ENSG00000106477	ENSG00000106477			12370	protein-coding gene	gene with protein product		610523	"""testis specific, 14"""	TSGA14		14654843, 22246503	Standard	NM_018718		Approved	DKFZp762H1311, FLJ22445, JBTS15	uc003vpz.4	Q9BYV8	OTTHUMG00000157823	ENST00000223208.5:c.584A>G	7.37:g.130041780T>C	ENSP00000223208:p.Tyr195Cys		129829016	NM_018718	A4D1M0|B4DQ35|F5H0V6|Q7Z496|Q86TM1|Q8NFU8|Q9H6A3|Q9NPV3	Missense_Mutation	SNP	ENST00000223208.5	37	CCDS5821.1	.	.	.	.	.	.	.	.	.	.	T	19.22	3.785056	0.70222	.	.	ENSG00000106477	ENST00000223208;ENST00000541543;ENST00000343969;ENST00000492389;ENST00000472739	T;T;T;T;T	0.43294	1.79;1.79;1.79;1.79;0.95	5.54	5.54	0.83059	Rhodanese-like (5);	0.060654	0.64402	D	0.000002	T	0.66665	0.2812	M	0.80028	2.48	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	0.71663	-0.4525	10	0.87932	D	0	-16.3876	14.8003	0.69909	0.0:0.0:0.0:1.0	.	179;195;195	F5H0V6;Q9BYV8-2;Q9BYV8	.;.;CEP41_HUMAN	C	195;179;195;160;160	ENSP00000223208:Y195C;ENSP00000445888:Y179C;ENSP00000342738:Y195C;ENSP00000419192:Y160C;ENSP00000417593:Y160C	ENSP00000223208:Y195C	Y	-	2	0	TSGA14	129829016	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.990000	0.70595	2.243000	0.73865	0.482000	0.46254	TAC		0.348	CEP41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349702.2	NM_018718	
PLXNA4	91584	broad.mit.edu	37	7	131866296	131866296	+	Silent	SNP	G	G	A	rs181526936		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr7:131866296G>A	ENST00000359827.3	-	18	4298	c.3336C>T	c.(3334-3336)acC>acT	p.T1112T	PLXNA4_ENST00000321063.4_Silent_p.T1112T			Q9HCM2	PLXA4_HUMAN	plexin A4	1112	IPT/TIG 3.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.T1112T(1)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CGGGCCTCTCGGTCAGGTCTG	0.582													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16573	0.0		0.0	False		,,,				2504	0.0				p.T1112T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3336T	7						.	G		2,3838		0,2,1918	99.0	102.0	101.0		3336	-10.5	0.0	7		101	0,8234		0,0,4117	no	coding-synonymous	PLXNA4	NM_020911.1		0,2,6035	AA,AG,GG		0.0,0.0521,0.0166		1112/1895	131866296	2,12072	1920	4117	6037	131516836	SO:0001819	synonymous_variant	91584	exon18			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3336C>T	7.37:g.131866296G>A			131516836	NM_020911	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	CCDS43646.1																																																																																				0.582	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775	
EXOC4	60412	broad.mit.edu	37	7	132959859	132959859	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr7:132959859C>T	ENST00000253861.4	+	2	238	c.209C>T	c.(208-210)aCg>aTg	p.T70M	EXOC4_ENST00000393161.2_Missense_Mutation_p.T70M|EXOC4_ENST00000539845.1_5'UTR	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	70					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)	p.T70M(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				ACAGAATTGACGACAGCCATT	0.468																																					p.T70M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C209T	7						.						137.0	121.0	126.0					7																	132959859		2203	4300	6503	132610399	SO:0001583	missense	60412	exon2			AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.209C>T	7.37:g.132959859C>T	ENSP00000253861:p.Thr70Met		132610399	NM_001037126	E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.994628	0.93167	.	.	ENSG00000131558	ENST00000253861;ENST00000393161	.	.	.	5.49	5.49	0.81192	Sec8 exocyst complex component specific domain (1);	0.000000	0.85682	D	0.000000	T	0.75715	0.3887	L	0.52573	1.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.73366	-0.4005	9	0.39692	T	0.17	.	19.3929	0.94592	0.0:1.0:0.0:0.0	.	70;70	Q96A65;Q8TAR2	EXOC4_HUMAN;.	M	70	.	ENSP00000253861:T70M	T	+	2	0	EXOC4	132610399	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	7.426000	0.80270	2.583000	0.87209	0.655000	0.94253	ACG		0.468	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807	
CALD1	800	broad.mit.edu	37	7	134644763	134644763	+	Silent	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr7:134644763G>T	ENST00000361675.2	+	12	2329	c.2100G>T	c.(2098-2100)tcG>tcT	p.S700S	CALD1_ENST00000495522.1_Silent_p.S464S|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000361388.2_Silent_p.S471S|CALD1_ENST00000543443.1_Silent_p.S450S|CALD1_ENST00000424922.1_Silent_p.S439S|CALD1_ENST00000422748.1_Silent_p.S470S|CALD1_ENST00000393118.2_Silent_p.S465S|CALD1_ENST00000417172.1_Silent_p.S445S|CALD1_ENST00000361901.2_Silent_p.S445S			Q05682	CALD1_HUMAN	caldesmon 1	700					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)	p.S700S(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						CGGCAGCCTCGGATCTTCCTG	0.443																																					p.S470S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1410T	7						.						103.0	92.0	95.0					7																	134644763		2203	4300	6503	134295303	SO:0001819	synonymous_variant	800	exon12			M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.2100G>T	7.37:g.134644763G>T			134295303	NM_033157	A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Silent	SNP	ENST00000361675.2	37	CCDS5835.1																																																																																				0.443	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138	
UBN2	254048	broad.mit.edu	37	7	138968157	138968157	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr7:138968157C>T	ENST00000473989.3	+	15	2506	c.2506C>T	c.(2506-2508)Cac>Tac	p.H836Y	UBN2_ENST00000288561.8_Missense_Mutation_p.H753Y	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	836						extracellular space (GO:0005615)|nucleus (GO:0005634)		p.H753Y(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TATTGCTGGTCACACAGGGCC	0.413																																					p.H836Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2506T	7						.						92.0	91.0	92.0					7																	138968157		1882	4117	5999	138618697	SO:0001583	missense	254048	exon15			AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.2506C>T	7.37:g.138968157C>T	ENSP00000418648:p.His836Tyr		138618697	NM_173569	A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	37	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	C	18.39	3.613387	0.66672	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.35421	1.31;1.39	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.54743	0.1877	L	0.46157	1.445	0.50813	D	0.999891	D	0.63880	0.993	D	0.70227	0.968	T	0.40251	-0.9573	10	0.34782	T	0.22	-10.0764	20.0185	0.97487	0.0:1.0:0.0:0.0	.	836	Q6ZU65	UBN2_HUMAN	Y	836;753	ENSP00000418648:H836Y;ENSP00000288561:H753Y	ENSP00000288561:H753Y	H	+	1	0	UBN2	138618697	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.317000	0.65822	2.809000	0.96659	0.467000	0.42956	CAC		0.413	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569	
NDUFB2	4708	broad.mit.edu	37	7	140402697	140402697	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr7:140402697T>C	ENST00000476279.1	+	2	204	c.130T>C	c.(130-132)Tat>Cat	p.Y44H	NDUFB2_ENST00000460088.1_5'UTR|NDUFB2_ENST00000482954.1_5'UTR|NDUFB2_ENST00000247866.4_Missense_Mutation_p.Y44H|NDUFB2_ENST00000476470.1_5'UTR|NDUFB2_ENST00000464564.2_3'UTR|NDUFB2_ENST00000471136.1_Missense_Mutation_p.Y32H|NDUFB2_ENST00000204307.5_Missense_Mutation_p.Y34H|NDUFB2_ENST00000465506.1_Missense_Mutation_p.Y44H|NDUFB2_ENST00000475276.1_Missense_Mutation_p.Y17H|NDUFB2_ENST00000472695.1_5'UTR|NDUFB2_ENST00000461457.1_Intron			O95178	NDUB2_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa	44					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.Y44H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|stomach(1)	10	Melanoma(164;0.00956)					TGAGCCCCGGTATAGACAGTT	0.527																																					p.Y44H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T130C	7						.						177.0	169.0	172.0					7																	140402697		2203	4300	6503	140049166	SO:0001583	missense	4708	exon2			AF050639	CCDS5862.1	7q34	2011-07-04	2002-08-29		ENSG00000090266	ENSG00000090266		"""Mitochondrial respiratory chain complex / Complex I"""	7697	protein-coding gene	gene with protein product	"""NADH-ubiquinone oxidoreductase AGGG subunit"", ""complex I AGGG subunit"""	603838	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2 (8kD, AGGG)"""			9763677, 9878551	Standard	NM_004546		Approved	AGGG, CI-AGGG	uc003vwa.3	O95178	OTTHUMG00000157424	ENST00000476279.1:c.130T>C	7.37:g.140402697T>C	ENSP00000419087:p.Tyr44His		140049166	NM_004546	Q6FGI6	Missense_Mutation	SNP	ENST00000476279.1	37	CCDS5862.1	.	.	.	.	.	.	.	.	.	.	T	19.23	3.786734	0.70337	.	.	ENSG00000090266	ENST00000476279;ENST00000247866;ENST00000465506;ENST00000204307;ENST00000464566;ENST00000471136;ENST00000475276	.	.	.	5.87	5.87	0.94306	.	0.121589	0.64402	D	0.000014	T	0.68879	0.3049	M	0.85859	2.78	0.80722	D	1	P	0.38078	0.617	B	0.38712	0.28	T	0.72527	-0.4266	9	0.46703	T	0.11	-15.589	15.9428	0.79771	0.0:0.0:0.0:1.0	.	44	O95178	NDUB2_HUMAN	H	44;44;44;34;43;32;17	.	ENSP00000204307:Y34H	Y	+	1	0	NDUFB2	140049166	1.000000	0.71417	0.367000	0.25926	0.957000	0.61999	6.912000	0.75753	2.244000	0.73946	0.533000	0.62120	TAT		0.527	NDUFB2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348784.1	NM_004546	
OR9A4	130075	broad.mit.edu	37	7	141618747	141618747	+	Silent	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr7:141618747T>C	ENST00000548136.1	+	1	131	c.72T>C	c.(70-72)caT>caC	p.H24H	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H24H(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					AACTACATCATATCCTTTTTG	0.393																																					p.H24H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T72C	7						.						229.0	239.0	236.0					7																	141618747		2181	4293	6474	141265216	SO:0001819	synonymous_variant	130075	exon1				CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"""GPCR / Class A : Olfactory receptors"""	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.72T>C	7.37:g.141618747T>C			141265216	NM_001001656	B9EGV6|Q6IFI4	Silent	SNP	ENST00000548136.1	37	CCDS43661.1																																																																																				0.393	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	NM_001001656	
TAS2R38	5726	broad.mit.edu	37	7	141673318	141673318	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr7:141673318G>T	ENST00000547270.1	-	1	255	c.172C>A	c.(172-174)Ctg>Atg	p.L58M		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	58					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.L58M(1)		NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					CTGAGACACAGCAGCACACAA	0.502																																					p.L58M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C172A	7						.						115.0	107.0	110.0					7																	141673318		2203	4300	6503	141319787	SO:0001583	missense	5726	exon1			AF494231	CCDS34765.1	7q34	2012-10-03	2003-05-29	2003-05-30	ENSG00000257138	ENSG00000257138		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	9584	protein-coding gene	gene with protein product		607751	"""phenylthiocarbamide tasting"""	PTC		12624758, 12584440	Standard	NM_176817		Approved	T2R61	uc003vwx.1	P59533	OTTHUMG00000158374	ENST00000547270.1:c.172C>A	7.37:g.141673318G>T	ENSP00000448219:p.Leu58Met		141319787	NM_176817	A4D1U6|P59552|Q2M3E8|Q645W3|Q86UK3	Missense_Mutation	SNP	ENST00000547270.1	37	CCDS34765.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.803308	0.31869	.	.	ENSG00000257138	ENST00000547270	T	0.00882	5.58	5.1	1.3	0.21679	.	0.544086	0.16670	N	0.204399	T	0.02649	0.0080	M	0.73598	2.24	0.09310	N	1	D	0.56035	0.974	P	0.58130	0.833	T	0.40961	-0.9535	10	0.49607	T	0.09	.	3.6386	0.08158	0.274:0.0:0.5527:0.1732	.	58	P59533	T2R38_HUMAN	M	58	ENSP00000448219:L58M	ENSP00000331291:L58M	L	-	1	2	TAS2R38	141319787	0.000000	0.05858	0.102000	0.21198	0.274000	0.26718	-0.187000	0.09656	0.064000	0.16427	0.655000	0.94253	CTG		0.502	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350810.2	NM_176817	
PRSS1	5644	broad.mit.edu	37	7	142459627	142459627	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr7:142459627G>T	ENST00000311737.7	+	3	209	c.203G>T	c.(202-204)cGc>cTc	p.R68L	PRSS1_ENST00000486171.1_Missense_Mutation_p.R82L	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	68	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.R68L(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	CCCATCAGCCGCATCCAGGTG	0.582																																					p.R68L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G203T	7						.						131.0	128.0	129.0					7																	142459627		2203	4300	6503	142139201	SO:0001583	missense	5644	exon3			M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.203G>T	7.37:g.142459627G>T	ENSP00000308720:p.Arg68Leu		142139201	NM_002769	A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.018018	0.35606	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243;ENST00000492062	D;D;D	0.88896	-2.44;-2.44;-2.44	3.28	1.39	0.22231	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.143154	0.64402	D	0.000003	T	0.81460	0.4827	N	0.24115	0.695	0.45899	D	0.998749	B;B	0.28082	0.2;0.089	B;B	0.35607	0.206;0.136	T	0.74127	-0.3765	10	0.62326	D	0.03	.	8.2478	0.31700	0.2138:0.0:0.7862:0.0	.	82;68	E7EQ64;P07477	.;TRY1_HUMAN	L	82;68;68;18	ENSP00000417854:R82L;ENSP00000308720:R68L;ENSP00000419912:R18L	ENSP00000308720:R68L	R	+	2	0	PRSS1	142139201	0.972000	0.33761	0.996000	0.52242	0.606000	0.37113	1.822000	0.39052	0.196000	0.20367	0.398000	0.26397	CGC		0.582	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2		
KEL	3792	broad.mit.edu	37	7	142658094	142658094	+	Silent	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr7:142658094G>T	ENST00000355265.2	-	4	795	c.321C>A	c.(319-321)gcC>gcA	p.A107A	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	107					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.A107A(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CCCTTCCACAGGCAAAGCTGA	0.522																																					p.A107A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C321A	7						.						124.0	125.0	124.0					7																	142658094		2203	4300	6503	142368216	SO:0001819	synonymous_variant	3792	exon4			BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.321C>A	7.37:g.142658094G>T			142368216	NM_000420	B2RBV4|Q96RS8|Q99885	Silent	SNP	ENST00000355265.2	37	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	G	2.786	-0.252449	0.05829	.	.	ENSG00000197993	ENST00000460479	.	.	.	5.66	3.84	0.44239	.	.	.	.	.	T	0.58807	0.2148	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53690	-0.8403	4	.	.	.	-0.0894	8.804	0.34927	0.1741:0.0:0.8259:0.0	.	.	.	.	M	118	.	.	L	-	1	2	KEL	142368216	0.953000	0.32496	1.000000	0.80357	0.065000	0.16274	1.257000	0.32932	0.723000	0.32274	0.655000	0.94253	CTG		0.522	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420	
EPHA1	2041	broad.mit.edu	37	7	143098543	143098543	+	Silent	SNP	G	G	A	rs547423890	byFrequency	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr7:143098543G>A	ENST00000275815.3	-	3	392	c.306C>T	c.(304-306)acC>acT	p.T102T		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	102	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)	p.T102T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				AGTCCCGCACGGTGAACTGCA	0.612													G|||	2	0.000399361	0.0	0.0	5008	,	,		18131	0.0		0.0	False		,,,				2504	0.002				p.T102T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C306T	7						.						120.0	122.0	121.0					7																	143098543		2203	4300	6503	142808665	SO:0001819	synonymous_variant	2041	exon3			M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.306C>T	7.37:g.143098543G>A			142808665	NM_005232	A1L3V3|B5A966|B5A967|Q15405	Silent	SNP	ENST00000275815.3	37	CCDS5884.1																																																																																				0.612	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1		
OR2F1	26211	broad.mit.edu	37	7	143657981	143657981	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr7:143657981G>T	ENST00000392899.1	+	1	955	c.918G>T	c.(916-918)tgG>tgT	p.W306C	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	306					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.W306C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					AACTATTATGGAAATTCTCTG	0.433																																					p.W306C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G918T	7						.						56.0	58.0	57.0					7																	143657981		2203	4300	6503	143288914	SO:0001583	missense	26211	exon1			U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215		"""GPCR / Class A : Olfactory receptors"""	8246	protein-coding gene	gene with protein product		608497	"""olfactory receptor, family 2, subfamily F, member 1"""	OR2F4, OR2F5, OR2F3, OR2F3P		9500546	Standard	NM_012369		Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.918G>T	7.37:g.143657981G>T	ENSP00000376633:p.Trp306Cys		143288914	NM_012369	A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Missense_Mutation	SNP	ENST00000392899.1	37	CCDS5887.1	.	.	.	.	.	.	.	.	.	.	G	9.426	1.084385	0.20309	.	.	ENSG00000213215	ENST00000392899	T	0.34275	1.37	5.42	-6.96	0.01622	.	0.134744	0.34178	N	0.004198	T	0.15132	0.0365	N	0.01874	-0.695	0.09310	N	0.999999	B	0.29037	0.231	B	0.36885	0.235	T	0.16808	-1.0390	10	0.45353	T	0.12	0.0331	15.782	0.78267	0.725:0.0:0.275:0.0	.	306	Q13607	OR2F1_HUMAN	C	306	ENSP00000376633:W306C	ENSP00000376633:W306C	W	+	3	0	OR2F1	143288914	0.000000	0.05858	0.000000	0.03702	0.237000	0.25408	-1.041000	0.03542	-1.577000	0.01650	-0.136000	0.14681	TGG		0.433	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349581.1		
ARHGEF5	7984	broad.mit.edu	37	7	144062446	144062446	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr7:144062446G>A	ENST00000056217.5	+	2	2858	c.2684G>A	c.(2683-2685)cGc>cAc	p.R895H	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	895					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.R895H(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)					TCTGCTGGACGCACCTCCTGG	0.577																																					p.R895H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2684A	7						.						8.0	9.0	9.0					7																	144062446		2077	4130	6207	143693379	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.2684G>A	7.37:g.144062446G>A	ENSP00000056217:p.Arg895His		143693379	NM_005435	A6NNJ2|Q6ZML7	Missense_Mutation	SNP	ENST00000056217.5	37	CCDS34771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.43|11.43	1.635492|1.635492	0.29068|0.29068	.|.	.|.	ENSG00000050327|ENSG00000050327	ENST00000474817|ENST00000056217	.|T	.|0.78364	.|-1.17	4.27|4.27	3.36|3.36	0.38483|0.38483	.|.	.|0.325193	.|0.19766	.|N	.|0.106559	T|T	0.54398|0.54398	0.1856|0.1856	N|N	0.24115|0.24115	0.695|0.695	0.24462|0.24462	N|N	0.994435|0.994435	.|P	.|0.51537	.|0.946	.|B	.|0.33295	.|0.161	T|T	0.50448|0.50448	-0.8827|-0.8827	5|10	.|0.25106	.|T	.|0.35	-14.6415|-14.6415	8.1353|8.1353	0.31050|0.31050	0.1143:0.0:0.8857:0.0|0.1143:0.0:0.8857:0.0	.|.	.|895	.|Q12774	.|ARHG5_HUMAN	T|H	149|895	.|ENSP00000056217:R895H	.|ENSP00000056217:R895H	A|R	+|+	1|2	0|0	ARHGEF5|ARHGEF5	143693379|143693379	0.789000|0.789000	0.28775|0.28775	0.135000|0.135000	0.22099|0.22099	0.782000|0.782000	0.44232|0.44232	0.938000|0.938000	0.28965|0.28965	2.222000|2.222000	0.72286|0.72286	0.555000|0.555000	0.69702|0.69702	GCA|CGC		0.577	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435	
CNTNAP2	26047	broad.mit.edu	37	7	147914416	147914416	+	Missense_Mutation	SNP	G	G	A	rs143879959		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr7:147914416G>A	ENST00000361727.3	+	19	3563	c.3047G>A	c.(3046-3048)cGa>cAa	p.R1016Q	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.R75Q	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1016					adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.R1016Q(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATGTGGCTACGATATAACTTT	0.488										HNSCC(39;0.1)																											p.R1016Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3047A	7						.	G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	115.0	116.0	115.0		3047	5.2	1.0	7	dbSNP_134	115	0,8600		0,0,4300	no	missense	CNTNAP2	NM_014141.5	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1016/1332	147914416	1,13005	2203	4300	6503	147545349	SO:0001583	missense	26047	exon19			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.3047G>A	7.37:g.147914416G>A	ENSP00000354778:p.Arg1016Gln		147545349	NM_014141	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389917	0.42410	2.27E-4	0.0	ENSG00000174469	ENST00000361727;ENST00000538075	T;T	0.79653	-1.29;-1.29	5.25	5.25	0.73442	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.070850	0.56097	D	0.000027	T	0.72439	0.3460	L	0.41710	1.295	0.30814	N	0.738567	B	0.29212	0.237	B	0.26864	0.074	T	0.66204	-0.5982	10	0.11794	T	0.64	.	17.4392	0.87561	0.0:0.0:1.0:0.0	.	1016	Q9UHC6	CNTP2_HUMAN	Q	1016;75	ENSP00000354778:R1016Q;ENSP00000440732:R75Q	ENSP00000354778:R1016Q	R	+	2	0	CNTNAP2	147545349	0.991000	0.36638	0.984000	0.44739	0.771000	0.43674	5.444000	0.66587	2.438000	0.82558	0.561000	0.74099	CGA		0.488	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1		
TMEM176B	28959	broad.mit.edu	37	7	150493597	150493597	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr7:150493597T>C	ENST00000447204.2	-	2	433	c.61A>G	c.(61-63)Acc>Gcc	p.T21A	TMEM176B_ENST00000492607.1_Missense_Mutation_p.T21A|TMEM176B_ENST00000429904.2_Missense_Mutation_p.T21A|TMEM176B_ENST00000326442.5_Missense_Mutation_p.T21A|TMEM176B_ENST00000450753.2_Missense_Mutation_p.T21A|TMEM176B_ENST00000434545.1_Missense_Mutation_p.T21A	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	21					cell differentiation (GO:0030154)|negative regulation of dendritic cell differentiation (GO:2001199)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.T21A(1)		cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTGACGTGGGTGGGCTGGGAT	0.527																																					p.T21A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A61G	7						.						94.0	85.0	88.0					7																	150493597		2203	4300	6503	150124530	SO:0001583	missense	28959	exon2			AF115384	CCDS5908.1, CCDS47746.1	7q36.1	2006-09-04			ENSG00000106565	ENSG00000106565			29596	protein-coding gene	gene with protein product		610385				9922225	Standard	NM_014020		Approved	LR8	uc003whu.4	Q3YBM2	OTTHUMG00000157577	ENST00000447204.2:c.61A>G	7.37:g.150493597T>C	ENSP00000410269:p.Thr21Ala		150124530	NM_001101312	B2RDK2|D3DWZ7|E9PAV4|Q5BJI2|Q9BT42|Q9Y609	Missense_Mutation	SNP	ENST00000447204.2	37	CCDS5908.1	.	.	.	.	.	.	.	.	.	.	T	1.630	-0.519333	0.04171	.	.	ENSG00000106565	ENST00000492607;ENST00000326442;ENST00000447204;ENST00000434545;ENST00000429904;ENST00000450753;ENST00000528038	T;T;T;T;T;T	0.10668	3.04;3.04;3.04;3.04;3.04;2.85	4.92	-3.25	0.05079	.	2.307170	0.02162	N	0.058843	T	0.07369	0.0186	L	0.33293	1	0.09310	N	1	B;B	0.14805	0.011;0.011	B;B	0.12837	0.008;0.008	T	0.27839	-1.0062	10	0.27082	T	0.32	-6.0863	0.6083	0.00757	0.2461:0.2265:0.1231:0.4043	.	21;21	E9PAV4;Q3YBM2	.;T176B_HUMAN	A	21	ENSP00000419258:T21A;ENSP00000318409:T21A;ENSP00000410269:T21A;ENSP00000413531:T21A;ENSP00000397810:T21A;ENSP00000404831:T21A	ENSP00000318409:T21A	T	-	1	0	TMEM176B	150124530	0.839000	0.29477	0.374000	0.26016	0.009000	0.06853	0.020000	0.13466	-0.731000	0.04862	-2.480000	0.00198	ACC		0.527	TMEM176B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349204.1	NM_014020	
KMT2C	58508	broad.mit.edu	37	7	151876974	151876974	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr7:151876974G>A	ENST00000262189.6	-	37	7605	c.7387C>T	c.(7387-7389)Cgt>Tgt	p.R2463C	KMT2C_ENST00000355193.2_Missense_Mutation_p.R2463C	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2463	Pro-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.R2463C(2)									TAGGGTCCACGCTGATCTTTT	0.463																																					p.R2463C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C7387T	7						.						137.0	128.0	131.0					7																	151876974		2203	4300	6503	151507907	SO:0001583	missense	58508	exon37			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.7387C>T	7.37:g.151876974G>A	ENSP00000262189:p.Arg2463Cys		151507907	NM_170606	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189982	0.58017	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.86956	-2.17;-2.19	5.5	5.5	0.81552	.	0.149326	0.30830	N	0.008782	D	0.93032	0.7782	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.74674	0.791;0.984	D	0.93524	0.6864	10	0.87932	D	0	.	18.3789	0.90444	0.0:0.0:1.0:0.0	.	2463;1524	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	C	2463	ENSP00000262189:R2463C;ENSP00000347325:R2463C	ENSP00000262189:R2463C	R	-	1	0	MLL3	151507907	1.000000	0.71417	0.741000	0.31004	0.946000	0.59487	5.546000	0.67243	2.578000	0.87016	0.650000	0.86243	CGT		0.463	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		
KMT2C	58508	broad.mit.edu	37	7	151879605	151879605	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr7:151879605C>T	ENST00000262189.6	-	36	5558	c.5340G>A	c.(5338-5340)caG>caA	p.Q1780Q	KMT2C_ENST00000355193.2_Silent_p.Q1780Q	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1780	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.Q1780Q(2)									gctgctgctgctgctCATTTT	0.423																																					p.Q1780Q												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G5340A	7						.						82.0	87.0	86.0					7																	151879605		2203	4300	6503	151510538	SO:0001819	synonymous_variant	58508	exon36			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.5340G>A	7.37:g.151879605C>T			151510538	NM_170606	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	CCDS5931.1																																																																																				0.423	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		
SDK1	221935	broad.mit.edu	37	7	4050739	4050739	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr7:4050739C>A	ENST00000404826.2	+	15	2412	c.2273C>A	c.(2272-2274)aCa>aAa	p.T758K	SDK1_ENST00000389531.3_Missense_Mutation_p.T758K	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	758	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.T758K(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGCGCCGAGACAAGCAGGTGC	0.597																																					p.T758K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2273A	7						.						31.0	28.0	29.0					7																	4050739		2203	4300	6503	4017265	SO:0001583	missense	221935	exon15			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2273C>A	7.37:g.4050739C>A	ENSP00000385899:p.Thr758Lys		4017265	NM_152744	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.456304	0.84317	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.54866	0.55;0.55	5.48	5.48	0.80851	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.74283	0.3696	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76865	-0.2801	10	0.87932	D	0	.	19.3713	0.94488	0.0:1.0:0.0:0.0	.	758;758	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	K	758	ENSP00000385899:T758K;ENSP00000374182:T758K	ENSP00000374182:T758K	T	+	2	0	SDK1	4017265	1.000000	0.71417	0.933000	0.37362	0.749000	0.42624	7.389000	0.79806	2.575000	0.86900	0.655000	0.94253	ACA		0.597	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744	
RBAK-RBAKDN	100533952	broad.mit.edu	37	7	5112676	5112676	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr7:5112676C>T	ENST00000407184.1	+	8	825	c.559C>T	c.(559-561)Cgt>Tgt	p.R187C	RBAK-RBAKDN_ENST00000396904.2_3'UTR|RBAKDN_ENST00000498308.1_lincRNA					RBAK-RBAKDN readthrough																		CCTGCGGTTCCGTGAGAGGCG	0.667																																					.												.	.	0			.	7						.						31.0	36.0	34.0					7																	5112676		2203	4300	6503	5079202	SO:0001583	missense	389458	.				CCDS56463.1	7p22.1	2013-05-20				ENSG00000272968			42971	other	readthrough							Standard	NM_001204513		Approved				OTTHUMG00000186010	ENST00000407184.1:c.559C>T	7.37:g.5112676C>T	ENSP00000385560:p.Arg187Cys		5079202	.		Missense_Mutation	SNP	ENST00000407184.1	37		.	.	.	.	.	.	.	.	.	.	C	11.85	1.762791	0.31228	.	.	ENSG00000146587	ENST00000407184	T	0.01185	5.21	3.43	-2.89	0.05665	.	.	.	.	.	T	0.00875	0.0029	.	.	.	.	.	.	B	0.16166	0.016	B	0.06405	0.002	T	0.48091	-0.9065	7	0.87932	D	0	.	1.6106	0.02692	0.1794:0.4985:0.1456:0.1766	.	55	A6NC62	YG007_HUMAN	C	187	ENSP00000385560:R187C	ENSP00000385560:R187C	R	+	1	0	RBAK	5079202	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.436000	0.06922	-0.679000	0.05217	0.563000	0.77884	CGT		0.667	RBAK-RBAKDN-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000472007.1		
TNRC18	84629	broad.mit.edu	37	7	5347803	5347803	+	Silent	SNP	G	G	A	rs374341519		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr7:5347803G>A	ENST00000430969.1	-	30	9189	c.8841C>T	c.(8839-8841)ctC>ctT	p.L2947L	TNRC18_ENST00000399537.4_Silent_p.L2947L	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2947	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.						chromatin binding (GO:0003682)	p.L2947L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		AGGTGCCCGCGAGGTAGTACA	0.662																																					p.L2947L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C8841T	7						.	G		0,4206		0,0,2103	32.0	38.0	36.0		8841	-4.6	1.0	7		36	1,8395		0,1,4197	no	coding-synonymous	TNRC18	NM_001080495.2		0,1,6300	AA,AG,GG		0.0119,0.0,0.0079		2947/2969	5347803	1,12601	2103	4198	6301	5314329	SO:0001819	synonymous_variant	84629	exon30			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.8841C>T	7.37:g.5347803G>A			5314329	NM_001080495	A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	CCDS47534.1																																																																																				0.662	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
EIF2AK1	27102	broad.mit.edu	37	7	6089587	6089587	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr7:6089587C>G	ENST00000199389.6	-	3	513	c.367G>C	c.(367-369)Gct>Cct	p.A123P	RN7SL851P_ENST00000480512.2_RNA|EIF2AK1_ENST00000536084.1_Intron	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	123					negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)	p.A123P(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		TGAGTAATAGCTCTGTTGTGA	0.353																																					p.A123P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G367C	7						.						75.0	72.0	73.0					7																	6089587		2203	4300	6503	6056113	SO:0001583	missense	27102	exon3			BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"""heme regulated initiation factor 2 alpha kinase"""	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.367G>C	7.37:g.6089587C>G	ENSP00000199389:p.Ala123Pro		6056113	NM_001134335	A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Missense_Mutation	SNP	ENST00000199389.6	37	CCDS5345.1	.	.	.	.	.	.	.	.	.	.	.	23.8	4.455442	0.84209	.	.	ENSG00000086232	ENST00000199389;ENST00000446699	T;T	0.15256	2.44;2.44	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.41650	0.1168	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.978;0.989	T	0.15578	-1.0432	10	0.32370	T	0.25	-16.5811	17.8035	0.88595	0.0:1.0:0.0:0.0	.	123;123	Q9BQI3-2;Q9BQI3	.;E2AK1_HUMAN	P	123	ENSP00000199389:A123P;ENSP00000397590:A123P	ENSP00000199389:A123P	A	-	1	0	EIF2AK1	6056113	1.000000	0.71417	0.995000	0.50966	0.977000	0.68977	5.584000	0.67490	2.286000	0.76751	0.442000	0.29010	GCT		0.353	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207373.2	NM_014413	
C7orf26	79034	broad.mit.edu	37	7	6634101	6634101	+	Silent	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr7:6634101G>A	ENST00000344417.5	+	3	717	c.450G>A	c.(448-450)aaG>aaA	p.K150K	C7orf26_ENST00000359073.5_Silent_p.K131K|C7orf26_ENST00000472693.1_3'UTR	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	150								p.K150K(1)		endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		GGTTAGCCAAGGCCCTTGTAG	0.522																																					p.K150K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G450A	7						.						246.0	222.0	230.0					7																	6634101		2203	4300	6503	6600626	SO:0001819	synonymous_variant	79034	exon3			BC005121	CCDS5353.1	7p22.1	2011-11-24			ENSG00000146576	ENSG00000146576			21702	protein-coding gene	gene with protein product							Standard	NM_024067		Approved	MGC2718	uc003sqo.1	Q96N11	OTTHUMG00000125517	ENST00000344417.5:c.450G>A	7.37:g.6634101G>A			6600626	NM_024067	Q9BQ43	Silent	SNP	ENST00000344417.5	37	CCDS5353.1																																																																																				0.522	C7orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246844.2	NM_024067	
MACC1	346389	broad.mit.edu	37	7	20199817	20199817	+	Missense_Mutation	SNP	C	C	T	rs202049959		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr7:20199817C>T	ENST00000400331.5	-	5	475	c.167G>A	c.(166-168)cGt>cAt	p.R56H	MACC1_ENST00000589011.1_Missense_Mutation_p.R56H|MACC1_ENST00000332878.4_Missense_Mutation_p.R56H	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	56					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R56H(1)		endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						ATTATTACCACGAAGGGTGAA	0.403													c|||	1	0.000199681	0.0	0.0	5008	,	,		17204	0.0		0.001	False		,,,				2504	0.0				p.R56H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G167A	7						.	C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	71.0	72.0	72.0		167	-3.0	0.0	7		72	0,8600		0,0,4300	no	missense	MACC1	NM_182762.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	56/853	20199817	1,13005	2203	4300	6503	20166342	SO:0001583	missense	346389	exon5				CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.167G>A	7.37:g.20199817C>T	ENSP00000383185:p.Arg56His		20166342	NM_182762	A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	ENST00000400331.5	37	CCDS5369.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	c	9.344	1.063738	0.20067	2.27E-4	0.0	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.09723	2.95;2.95	5.62	-3.05	0.05396	.	0.979768	0.08407	N	0.950441	T	0.02267	0.0070	N	0.00368	-1.59	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45760	-0.9239	10	0.26408	T	0.33	1.4339	6.3887	0.21576	0.0:0.3326:0.2311:0.4363	.	56	Q6ZN28	MACC1_HUMAN	H	56	ENSP00000383185:R56H;ENSP00000328410:R56H	ENSP00000328410:R56H	R	-	2	0	MACC1	20166342	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.248000	0.08854	-0.830000	0.04262	-1.463000	0.01021	CGT		0.403	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762	
ITGB8	3696	broad.mit.edu	37	7	20418789	20418789	+	Silent	SNP	C	C	T	rs200718910		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr7:20418789C>T	ENST00000222573.4	+	4	1188	c.504C>T	c.(502-504)tcC>tcT	p.S168S	SNORD56_ENST00000363883.1_RNA|ITGB8_ENST00000537992.1_Silent_p.S33S	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	168	VWFA.				cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)	p.S168S(4)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						AATTAAATTCCGTTGGAAACG	0.338													c|||	1	0.000199681	0.0	0.0	5008	,	,		12176	0.0		0.001	False		,,,				2504	0.0				p.S168S												.	.	4	Substitution - coding silent(4)	large_intestine(2)|lung(2)	c.C504T	7						.	T		0,4406		0,0,2203	81.0	87.0	85.0		504	-11.6	0.1	7		85	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ITGB8	NM_002214.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		168/770	20418789	1,13005	2203	4300	6503	20385314	SO:0001819	synonymous_variant	3696	exon4				CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"""Integrins"""	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.504C>T	7.37:g.20418789C>T			20385314	NM_002214	A4D133|B4DHD4	Silent	SNP	ENST00000222573.4	37	CCDS5370.1																																																																																				0.338	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214	
ABCA13	154664	broad.mit.edu	37	7	48352729	48352729	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr7:48352729C>T	ENST00000435803.1	+	25	9606	c.9582C>T	c.(9580-9582)agC>agT	p.S3194S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3194					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S3139S(1)|p.S3194S(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						CCAGCCTCAGCGCCTTGCTTG	0.433																																					p.A3140V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C9419T	7						.						66.0	65.0	65.0					7																	48352729		1881	4107	5988	48323275	SO:0001819	synonymous_variant	154664	exon23			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.9582C>T	7.37:g.48352729C>T			48323275	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	CCDS47584.1																																																																																				0.433	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
COBL	23242	broad.mit.edu	37	7	51096641	51096641	+	Nonsense_Mutation	SNP	G	G	A	rs372919855		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr7:51096641G>A	ENST00000265136.7	-	10	2317	c.2152C>T	c.(2152-2154)Cga>Tga	p.R718*	COBL_ENST00000395542.2_Nonsense_Mutation_p.R800*	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	718					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)	p.R718*(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TCGTAACATCGCATCTCTGAC	0.507																																					p.R718X	NSCLC(189;2119 2138 12223 30818 34679)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2152T	7						.	G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	120.0	99.0	106.0		2152	2.0	0.4	7		106	0,8600		0,0,4300	no	stop-gained	COBL	NM_015198.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		718/1262	51096641	1,13005	2203	4300	6503	51064135	SO:0001587	stop_gained	23242	exon10			AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.2152C>T	7.37:g.51096641G>A	ENSP00000265136:p.Arg718*		51064135	NM_015198	A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Nonsense_Mutation	SNP	ENST00000265136.7	37	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878423	0.91740	2.27E-4	0.0	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542	.	.	.	5.83	2.05	0.26809	.	0.256704	0.28062	N	0.016752	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0117	0.58735	0.0:0.0:0.4063:0.5937	.	.	.	.	X	718;610;603;800	.	ENSP00000265136:R718X	R	-	1	2	COBL	51064135	0.731000	0.28111	0.371000	0.25978	0.392000	0.30506	1.452000	0.35156	0.102000	0.17638	-0.262000	0.10625	CGA		0.507	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198	
POM121L12	285877	broad.mit.edu	37	7	53103651	53103651	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr7:53103651G>A	ENST00000408890.4	+	1	303	c.287G>A	c.(286-288)gGc>gAc	p.G96D		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	96								p.G96D(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GTCTCCGAGGGCTGGAGGCGC	0.701																																					p.G96D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G287A	7						.						17.0	20.0	19.0					7																	53103651		1918	4108	6026	53071145	SO:0001583	missense	285877	exon1				CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.287G>A	7.37:g.53103651G>A	ENSP00000386133:p.Gly96Asp		53071145	NM_182595	Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.926920	0.52759	.	.	ENSG00000221900	ENST00000408890	T	0.22134	1.97	2.52	1.43	0.22495	.	.	.	.	.	T	0.09686	0.0238	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27365	-1.0076	9	0.59425	D	0.04	.	4.2362	0.10627	0.2669:0.4713:0.2618:0.0	.	96	Q8N7R1	P1L12_HUMAN	D	96	ENSP00000386133:G96D	ENSP00000386133:G96D	G	+	2	0	POM121L12	53071145	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.771000	0.04699	0.373000	0.24621	-0.357000	0.07601	GGC		0.701	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595	
LANCL2	55915	broad.mit.edu	37	7	55467670	55467670	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr7:55467670C>T	ENST00000254770.2	+	4	1129	c.551C>T	c.(550-552)tCg>tTg	p.S184L	LANCL2_ENST00000486376.1_3'UTR	NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	184					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of abscisic acid-activated signaling pathway (GO:0009789)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|GTP binding (GO:0005525)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)	p.S184L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			CTCCAGAGATCGGTTGTCTGC	0.433																																					p.S184L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C551T	7						.						140.0	132.0	135.0					7																	55467670		2203	4300	6503	55435164	SO:0001583	missense	55915	exon4			AJ278245	CCDS5517.1	7q31.1-q31.33	2008-07-18	2001-12-04		ENSG00000132434	ENSG00000132434			6509	protein-coding gene	gene with protein product	"""testis-specific adriamycin sensitivity protein"", ""G protein-coupled receptor 69B"""	612919	"""LanC (bacterial lantibiotic synthetase component C)-like 2"""	GPR69B		11762191	Standard	NM_018697		Approved	TASP	uc003tqp.3	Q9NS86	OTTHUMG00000023779	ENST00000254770.2:c.551C>T	7.37:g.55467670C>T	ENSP00000254770:p.Ser184Leu		55435164	NM_018697	B2R8D4|Q6NSL4|Q8TCQ3|Q9BSR1	Missense_Mutation	SNP	ENST00000254770.2	37	CCDS5517.1	.	.	.	.	.	.	.	.	.	.	C	0.997	-0.692019	0.03303	.	.	ENSG00000132434	ENST00000254770	T	0.39997	1.05	5.47	2.53	0.30540	Six-hairpin glycosidase-like (1);	0.615661	0.19180	N	0.120710	T	0.31263	0.0791	L	0.38838	1.175	0.09310	N	1	B	0.15719	0.014	B	0.12837	0.008	T	0.17410	-1.0370	10	0.27785	T	0.31	.	11.1122	0.48239	0.131:0.4311:0.4379:0.0	.	184	Q9NS86	LANC2_HUMAN	L	184	ENSP00000254770:S184L	ENSP00000254770:S184L	S	+	2	0	LANCL2	55435164	0.000000	0.05858	0.007000	0.13788	0.275000	0.26752	0.692000	0.25482	0.289000	0.22422	0.650000	0.86243	TCG		0.433	LANCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251459.1	NM_018697	
BAZ1B	9031	broad.mit.edu	37	7	72892312	72892312	+	Silent	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr7:72892312G>A	ENST00000339594.4	-	7	1817	c.1479C>T	c.(1477-1479)agC>agT	p.S493S	BAZ1B_ENST00000404251.1_Silent_p.S493S	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	493	Lys-rich.				cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)	p.S493S(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				AGGACAGGGCGCTCCTCTTGT	0.468																																					p.S493S	Esophageal Squamous(112;1167 1561 21085 43672 48228)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1479T	7						.						108.0	108.0	108.0					7																	72892312		2203	4300	6503	72530248	SO:0001819	synonymous_variant	9031	exon7			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.1479C>T	7.37:g.72892312G>A			72530248	NM_032408	B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Silent	SNP	ENST00000339594.4	37	CCDS5549.1																																																																																				0.468	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408	
HIP1	3092	broad.mit.edu	37	7	75228563	75228563	+	Silent	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr7:75228563A>G	ENST00000336926.6	-	2	149	c.123T>C	c.(121-123)acT>acC	p.T41T	HIP1_ENST00000434438.2_Silent_p.T41T	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	41	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)	p.T41T(1)		breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGATGCTGACAGTCTGAAAAA	0.507			T	PDGFRB	CMML																																p.T41T			Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T123C	7						.						110.0	116.0	114.0					7																	75228563		2203	4300	6503	75066499	SO:0001819	synonymous_variant	3092	exon2			AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.123T>C	7.37:g.75228563A>G			75066499	NM_005338	B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Silent	SNP	ENST00000336926.6	37	CCDS34669.1																																																																																				0.507	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338	
HGF	3082	broad.mit.edu	37	7	81359010	81359010	+	Silent	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr7:81359010G>A	ENST00000222390.5	-	8	1177	c.951C>T	c.(949-951)gtC>gtT	p.V317V	HGF_ENST00000457544.2_Silent_p.V312V	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	317	Kringle 3. {ECO:0000255|PROSITE- ProRule:PRU00121}.			V -> A (in Ref. 2; CAA34387). {ECO:0000305}.	activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)	p.V317V(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						AAATGGTATTGACAGTGCCCC	0.423																																					p.V317V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C951T	7						.						171.0	158.0	163.0					7																	81359010		2203	4300	6503	81196946	SO:0001819	synonymous_variant	3082	exon8				CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.951C>T	7.37:g.81359010G>A			81196946	NM_000601	A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Silent	SNP	ENST00000222390.5	37	CCDS5597.1																																																																																				0.423	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601	
PCLO	27445	broad.mit.edu	37	7	82508722	82508722	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr7:82508722C>T	ENST00000333891.9	-	10	13922	c.13585G>A	c.(13585-13587)Gaa>Aaa	p.E4529K	PCLO_ENST00000423517.2_Missense_Mutation_p.E4529K|PCLO_ENST00000426442.2_5'UTR	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.E4529K(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCTCCAATTTCTCCACTATGT	0.368																																					p.E4529K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G13585A	7						.						91.0	83.0	85.0					7																	82508722		1829	4077	5906	82346658	SO:0001583	missense	27445	exon10			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.13585G>A	7.37:g.82508722C>T	ENSP00000334319:p.Glu4529Lys		82346658	NM_033026		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.935341	0.52866	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000380195	T;T	0.27104	1.69;1.69	4.8	4.8	0.61643	.	.	.	.	.	T	0.36110	0.0955	L	0.42686	1.345	0.80722	D	1	P;D	0.53885	0.927;0.963	P;P	0.52309	0.695;0.695	T	0.19031	-1.0318	9	0.87932	D	0	.	17.8176	0.88639	0.0:1.0:0.0:0.0	.	4529;4529	Q9Y6V0-5;Q9Y6V0-6	.;.	K	4529;4529;25	ENSP00000334319:E4529K;ENSP00000388393:E4529K	ENSP00000334319:E4529K	E	-	1	0	PCLO	82346658	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.831000	0.69330	2.364000	0.80123	0.591000	0.81541	GAA		0.368	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
ZNF804B	219578	broad.mit.edu	37	7	88963374	88963374	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr7:88963374C>A	ENST00000333190.4	+	4	1687	c.1078C>A	c.(1078-1080)Cca>Aca	p.P360T		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	360							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TGTTAATCACCCATGCCAAGC	0.383										HNSCC(36;0.09)																											p.P360T												.	.	0			c.C1078A	7						.						38.0	43.0	41.0					7																	88963374		2203	4300	6503	88801310	SO:0001583	missense	219578	exon4			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1078C>A	7.37:g.88963374C>A	ENSP00000329638:p.Pro360Thr		88801310	NM_181646	B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	0.026	-1.373091	0.01214	.	.	ENSG00000182348	ENST00000333190	T	0.04706	3.57	5.19	0.778	0.18543	.	1.150180	0.06508	N	0.737595	T	0.03136	0.0092	N	0.22421	0.69	0.09310	N	1	B	0.30763	0.294	B	0.22386	0.039	T	0.47598	-0.9105	10	0.15066	T	0.55	-0.0174	5.3327	0.15942	0.0:0.3358:0.2831:0.3811	.	360	A4D1E1	Z804B_HUMAN	T	360	ENSP00000329638:P360T	ENSP00000329638:P360T	P	+	1	0	ZNF804B	88801310	0.000000	0.05858	0.404000	0.26397	0.434000	0.31775	0.102000	0.15272	-0.011000	0.14247	-0.136000	0.14681	CCA		0.383	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646	
HEPACAM2	253012	broad.mit.edu	37	7	92837970	92837970	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr7:92837970T>C	ENST00000394468.2	-	4	1012	c.935A>G	c.(934-936)gAc>gGc	p.D312G	HEPACAM2_ENST00000341723.4_Missense_Mutation_p.D300G|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.D335G|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.D300G	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	312	Ig-like C2-type 2.				centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)		p.D300G(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GCACACATAGTCCATTGTCTT	0.433																																					p.D300G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A899G	7						.						171.0	149.0	157.0					7																	92837970		2203	4300	6503	92675906	SO:0001583	missense	253012	exon3			AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.935A>G	7.37:g.92837970T>C	ENSP00000377980:p.Asp312Gly		92675906	NM_198151	B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Missense_Mutation	SNP	ENST00000394468.2	37	CCDS43616.1	.	.	.	.	.	.	.	.	.	.	T	16.71	3.197572	0.58126	.	.	ENSG00000188175	ENST00000394468;ENST00000341723;ENST00000440868;ENST00000453812	T;T;T;T	0.12465	2.68;2.68;2.68;2.68	5.04	5.04	0.67666	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.151954	0.64402	D	0.000020	T	0.14227	0.0344	L	0.27053	0.805	0.48830	D	0.999712	P;P;B;B	0.39352	0.629;0.669;0.112;0.102	B;B;B;B	0.44315	0.446;0.266;0.119;0.073	T	0.12785	-1.0534	10	0.23891	T	0.37	-10.8984	15.47	0.75434	0.0:0.0:0.0:1.0	.	335;300;312;300	E9PDV5;C9JN07;A8MVW5;A8MVW5-2	.;.;HECA2_HUMAN;.	G	312;300;300;335	ENSP00000377980:D312G;ENSP00000340532:D300G;ENSP00000389592:D300G;ENSP00000390204:D335G	ENSP00000340532:D300G	D	-	2	0	HEPACAM2	92675906	1.000000	0.71417	0.809000	0.32408	0.392000	0.30506	6.943000	0.75934	2.196000	0.70406	0.533000	0.62120	GAC		0.433	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151	
TFPI2	7980	broad.mit.edu	37	7	93519503	93519503	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr7:93519503C>T	ENST00000222543.5	-	2	529	c.217G>A	c.(217-219)Gcc>Acc	p.A73T	TFPI2_ENST00000545378.1_Missense_Mutation_p.A73T|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	73	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.A73T(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)			AAATTGTTGGCGTTGCCCTCG	0.617																																					p.A73T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G217A	7						.						36.0	39.0	38.0					7																	93519503		2203	4300	6503	93357439	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.217G>A	7.37:g.93519503C>T	ENSP00000222543:p.Ala73Thr		93357439	NM_006528	Q66ME8|Q8NAK6|Q9UC86	Missense_Mutation	SNP	ENST00000222543.5	37	CCDS5632.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.533614	0.85812	.	.	ENSG00000105825	ENST00000222543;ENST00000545378	T;T	0.59638	0.25;0.25	4.95	4.95	0.65309	Proteinase inhibitor I2, Kunitz metazoa (5);Proteinase inhibitor I2, Kunitz, conserved site (1);	0.372659	0.29995	N	0.010674	T	0.74861	0.3772	M	0.84846	2.72	0.35548	D	0.803648	D;D;D;D	0.89917	0.998;0.999;1.0;0.999	P;D;D;D	0.77004	0.908;0.96;0.989;0.96	T	0.77472	-0.2575	10	0.15499	T	0.54	.	13.1899	0.59704	0.1598:0.8402:0.0:0.0	.	44;62;73;73	A4ZVU7;Q8NAK6;F5H3J8;P48307	.;.;.;TFPI2_HUMAN	T	73	ENSP00000222543:A73T;ENSP00000438861:A73T	ENSP00000222543:A73T	A	-	1	0	TFPI2	93357439	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	2.567000	0.45956	2.450000	0.82876	0.313000	0.20887	GCC		0.617	TFPI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254720.2	NM_006528	
ZKSCAN5	23660	broad.mit.edu	37	7	99129118	99129118	+	Missense_Mutation	SNP	G	G	A	rs141273536		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr7:99129118G>A	ENST00000394170.2	+	7	2017	c.1766G>A	c.(1765-1767)cGc>cAc	p.R589H	ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.R589H|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.R589H	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	589					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.R589H(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TACAACCAACGCGTGCACCTA	0.488																																					p.R589H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1766A	7						.	G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	98.0	92.0	94.0		1766,1766	5.2	0.9	7	dbSNP_134	94	0,8600		0,0,4300	no	missense,missense	ZKSCAN5	NM_014569.3,NM_145102.2	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	589/840,589/840	99129118	1,13005	2203	4300	6503	98967054	SO:0001583	missense	23660	exon7			AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.1766G>A	7.37:g.99129118G>A	ENSP00000377725:p.Arg589His		98967054	NM_145102	A4D280|D6W5S9	Missense_Mutation	SNP	ENST00000394170.2	37	CCDS5667.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016605	0.54468	2.27E-4	0.0	ENSG00000196652	ENST00000537357;ENST00000326775;ENST00000451158;ENST00000394170	T;T;T	0.36157	1.27;1.27;1.27	5.22	5.22	0.72569	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000035	T	0.24928	0.0605	L	0.34521	1.04	0.09310	N	1	P;P	0.50369	0.934;0.934	B;B	0.35278	0.199;0.199	T	0.26292	-1.0107	10	0.21540	T	0.41	.	16.6794	0.85288	0.0:0.0:1.0:0.0	.	589;589	Q8N718;Q9Y2L8	.;ZKSC5_HUMAN	H	589	ENSP00000322872:R589H;ENSP00000392104:R589H;ENSP00000377725:R589H	ENSP00000322872:R589H	R	+	2	0	ZKSCAN5	98967054	0.097000	0.21791	0.936000	0.37596	0.878000	0.50629	2.136000	0.42121	2.890000	0.99128	0.585000	0.79938	CGC		0.488	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569	
CYP3A7	1551	broad.mit.edu	37	7	99332661	99332661	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr7:99332661A>G	ENST00000336374.2	-	1	58	c.56T>C	c.(55-57)cTg>cCg	p.L19P		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	19					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)	p.L19P(1)		autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	GAGGAGTATCAGGCTGACAGC	0.468																																					p.L19P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T56C	7						.						165.0	140.0	148.0					7																	99332661		2203	4300	6503	99170597	SO:0001583	missense	1551	exon1			AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870		"""Cytochrome P450s"""	2640	protein-coding gene	gene with protein product		605340	"""cytochrome P450, subfamily IIIA, polypeptide 7"""			2722762	Standard	NM_000765		Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.56T>C	7.37:g.99332661A>G	ENSP00000337450:p.Leu19Pro		99170597	NM_000765	A4D288|Q9H241	Missense_Mutation	SNP	ENST00000336374.2	37	CCDS5673.1	.	.	.	.	.	.	.	.	.	.	A	10.06	1.247421	0.22880	.	.	ENSG00000160870	ENST00000292414;ENST00000336374	T	0.10763	2.84	3.49	3.49	0.39957	.	0.280868	0.29752	N	0.011300	T	0.22282	0.0537	L	0.54323	1.7	0.32108	N	0.589719	D	0.65815	0.995	D	0.64237	0.923	T	0.10776	-1.0615	10	0.87932	D	0	.	8.5116	0.33220	1.0:0.0:0.0:0.0	.	19	P24462	CP3A7_HUMAN	P	19	ENSP00000337450:L19P	ENSP00000292414:L19P	L	-	2	0	CYP3A7	99170597	0.699000	0.27786	0.795000	0.32087	0.050000	0.14768	2.314000	0.43743	1.570000	0.49709	0.418000	0.28097	CTG		0.468	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345484.1		
PAXIP1	22976	broad.mit.edu	37	7	154760249	154760249	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr7:154760249C>T	ENST00000404141.1	-	7	1816	c.1662G>A	c.(1660-1662)gcG>gcA	p.A554A	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Silent_p.A554A			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	554	Gln-rich.			Missing (in Ref. 4; AAB91434). {ECO:0000305}.	adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)		p.A520A(1)		NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		TCAAGTGTGGCGCTGTCTGAC	0.622																																					p.A554A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1662A	7						.						23.0	25.0	24.0					7																	154760249		1967	3700	5667	154391182	SO:0001819	synonymous_variant	22976	exon7			U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"""PAX transcription activation domain interacting protein 1 like"""	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.1662G>A	7.37:g.154760249C>T			154391182	NM_007349	O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Silent	SNP	ENST00000404141.1	37	CCDS47753.1																																																																																				0.622	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349	
SLC30A8	169026	broad.mit.edu	37	8	118159213	118159213	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr8:118159213C>A	ENST00000456015.2	+	2	92	c.92C>A	c.(91-93)cCg>cAg	p.P31Q	SLC30A8_ENST00000521035.1_3'UTR|SLC30A8_ENST00000519688.1_5'UTR|SLC30A8_ENST00000521243.1_5'UTR|SLC30A8_ENST00000427715.2_5'UTR	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	31					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)	p.P31Q(3)|p.P31K(1)		breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CAACAGAAACCGGTGAATAAA	0.522																																					p.P31Q	Ovarian(162;1202 1922 6011 16223 52092)											.	.	4	Substitution - Missense(4)	lung(3)|large_intestine(1)	c.C92A	8						.						77.0	74.0	75.0					8																	118159213		2203	4300	6503	118228394	SO:0001583	missense	169026	exon2				CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"""Solute carriers"""	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.92C>A	8.37:g.118159213C>A	ENSP00000415011:p.Pro31Gln		118228394	NM_173851	A0AVP9|A5YM39|B4DPE0|Q8TCL3	Missense_Mutation	SNP	ENST00000456015.2	37	CCDS6322.1	.	.	.	.	.	.	.	.	.	.	C	7.383	0.629136	0.14257	.	.	ENSG00000164756	ENST00000456015	T	0.63417	-0.04	5.51	1.27	0.21489	.	0.409361	0.19568	N	0.111160	T	0.46073	0.1374	L	0.29908	0.895	0.09310	N	0.999998	B	0.27068	0.167	B	0.26770	0.073	T	0.42275	-0.9461	10	0.72032	D	0.01	-1.9819	7.9068	0.29767	0.4671:0.4537:0.0:0.0792	.	31	Q8IWU4	ZNT8_HUMAN	Q	31	ENSP00000415011:P31Q	ENSP00000415011:P31Q	P	+	2	0	SLC30A8	118228394	0.000000	0.05858	0.113000	0.21522	0.103000	0.19146	0.313000	0.19415	0.327000	0.23409	0.561000	0.74099	CCG		0.522	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851	
SNTB1	6641	broad.mit.edu	37	8	121644855	121644855	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr8:121644855C>T	ENST00000395601.3	-	4	1239	c.825G>A	c.(823-825)acG>acA	p.T275T	SNTB1_ENST00000519177.1_5'UTR|SNTB1_ENST00000517992.1_Silent_p.T275T	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	275	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)		p.T275T(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			TTAGGATCACCGTGTGCTTAG	0.532																																					p.T275T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G825A	8						.						112.0	102.0	105.0					8																	121644855		2203	4300	6503	121714036	SO:0001819	synonymous_variant	6641	exon3			AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"""Pleckstrin homology (PH) domain containing"""	11168	protein-coding gene	gene with protein product	"""tax interaction protein 43"""	600026	"""syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"""	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.825G>A	8.37:g.121644855C>T			121714036	NM_021021	A8K9E0|O14912|Q4KMG8	Silent	SNP	ENST00000395601.3	37	CCDS6334.1																																																																																				0.532	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381535.1	NM_021021	
KCNQ3	3786	broad.mit.edu	37	8	133196577	133196577	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr8:133196577G>A	ENST00000388996.4	-	3	935	c.515C>T	c.(514-516)gCt>gTt	p.A172V	KCNQ3_ENST00000521134.1_Missense_Mutation_p.A52V|KCNQ3_ENST00000519445.1_Missense_Mutation_p.A172V	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	172					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.A172V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GATCCTCAAAGCAAACTCGGC	0.527																																					p.A172V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C515T	8						.						98.0	97.0	97.0					8																	133196577		2203	4300	6503	133265759	SO:0001583	missense	3786	exon3			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.515C>T	8.37:g.133196577G>A	ENSP00000373648:p.Ala172Val		133265759	NM_004519	A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.107750	0.56291	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.98044	-4.68;-4.68;-4.68	5.87	4.99	0.66335	Ion transport (1);	0.049734	0.85682	D	0.000000	D	0.94198	0.8138	N	0.13299	0.325	0.41315	D	0.987135	P;P	0.34462	0.454;0.454	B;B	0.38156	0.266;0.266	D	0.93484	0.6830	10	0.41790	T	0.15	-14.9204	14.5176	0.67830	0.0713:0.0:0.9287:0.0	.	172;172	E7ET42;O43525	.;KCNQ3_HUMAN	V	172;52;172;161;51	ENSP00000373648:A172V;ENSP00000429799:A52V;ENSP00000428790:A172V	ENSP00000373648:A172V	A	-	2	0	KCNQ3	133265759	0.978000	0.34361	1.000000	0.80357	0.986000	0.74619	1.723000	0.38053	2.779000	0.95612	0.655000	0.94253	GCT		0.527	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519	
WISP1	8840	broad.mit.edu	37	8	134225386	134225386	+	Splice_Site	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr8:134225386C>T	ENST00000250160.6	+	2	455	c.349C>T	c.(349-351)Cag>Tag	p.Q117*	WISP1_ENST00000220856.6_Splice_Site_p.H117Y|WISP1_ENST00000377863.2_Intron|WISP1_ENST00000517423.1_Splice_Site_p.R117C|WISP1_ENST00000519433.1_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	117	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)		p.Q117*(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			AGTGTGTGCACGTAAGTGAGT	0.632																																					p.Q117X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C349T	8						.						57.0	56.0	56.0					8																	134225386		2203	4300	6503	134294568	SO:0001630	splice_region_variant	8840	exon2			AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			ENSG00000104415	ENSG00000104415			12769	protein-coding gene	gene with protein product		603398				9843955	Standard	NM_003882		Approved	CCN4	uc003yub.3	O95388	OTTHUMG00000164440	ENST00000250160.6:c.349+1C>T	8.37:g.134225386C>T			134294568	NM_003882	A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Nonsense_Mutation	SNP	ENST00000250160.6	37	CCDS6371.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	37|37|37	6.234809|6.234809|6.234809	0.97399|0.97399|0.97399	.|.|.	.|.|.	ENSG00000104415|ENSG00000104415|ENSG00000104415	ENST00000220856|ENST00000250160|ENST00000517423	T|.|T	0.62941|.|0.62105	-0.01|.|0.05	5.34|5.34|5.34	5.34|5.34|5.34	0.76211|0.76211|0.76211	.|.|.	.|0.472415|.	.|0.23587|.	.|U|.	.|0.046595|.	T|.|T	0.36853|.|0.36853	0.0982|.|0.0982	N|N|N	0.00465|0.00465|0.00465	-1.465|-1.465|-1.465	0.80722|0.80722|0.80722	D|D|D	1|1|1	B|.|D	0.17465|.|0.69078	0.022|.|0.997	B|.|P	0.08055|.|0.47299	0.003|.|0.543	T|.|T	0.61671|.|0.61671	-0.7015|.|-0.7015	9|.|9	0.02654|0.29301|0.38643	T|T|T	1|0.29|0.18	-24.8189|-24.8189|-24.8189	18.0281|18.0281|18.0281	0.89275|0.89275|0.89275	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	117|.|117	O95388-2|.|E7EMM5	.|.|.	Y|X|C	117|117|117	ENSP00000220856:H117Y|.|ENSP00000427744:R117C	ENSP00000220856:H117Y|ENSP00000250160:Q117X|ENSP00000427744:R117C	H|Q|R	+|+|+	1|1|1	0|0|0	WISP1|WISP1|WISP1	134294568|134294568|134294568	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.986000|0.986000|0.986000	0.74619|0.74619|0.74619	3.713000|3.713000|3.713000	0.54882|0.54882|0.54882	2.499000|2.499000|2.499000	0.84300|0.84300|0.84300	0.549000|0.549000|0.549000	0.68633|0.68633|0.68633	CAT|CAG|CGC		0.632	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378794.2	NM_003882	Nonsense_Mutation
COL22A1	169044	broad.mit.edu	37	8	139737662	139737662	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr8:139737662C>T	ENST00000303045.6	-	24	2607	c.2161G>A	c.(2161-2163)Gtc>Atc	p.V721I	COL22A1_ENST00000435777.1_Missense_Mutation_p.V721I	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	721	Collagen-like 5.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.V721I(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGGCCTGGGACACCAGGGGGT	0.587										HNSCC(7;0.00092)																											p.V721I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2161A	8						.						53.0	61.0	58.0					8																	139737662		2203	4300	6503	139806844	SO:0001583	missense	169044	exon24			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2161G>A	8.37:g.139737662C>T	ENSP00000303153:p.Val721Ile		139806844	NM_152888	B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.396389	0.25205	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.92299	-3.01;-3.01	4.94	-1.55	0.08558	.	1.381150	0.04994	N	0.467868	T	0.77068	0.4076	N	0.02403	-0.565	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.66602	-0.5882	10	0.20519	T	0.43	.	4.4021	0.11392	0.0:0.334:0.3047:0.3613	.	721;721	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	I	721;721;434	ENSP00000303153:V721I;ENSP00000387655:V721I	ENSP00000303153:V721I	V	-	1	0	COL22A1	139806844	0.000000	0.05858	0.147000	0.22382	0.840000	0.47671	-0.574000	0.05868	-0.128000	0.11641	-0.136000	0.14681	GTC		0.587	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	
AGO2	27161	broad.mit.edu	37	8	141549525	141549525	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr8:141549525C>T	ENST00000220592.5	-	16	2175	c.2063G>A	c.(2062-2064)cGt>cAt	p.R688H	AGO2_ENST00000519980.1_Missense_Mutation_p.R688H	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	688	Piwi. {ECO:0000255|HAMAP-Rule:MF_03031}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)	p.R688H(1)									ACAGGCCTCACGGATGGCCAG	0.567																																					p.R688H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2063A	8						.						91.0	81.0	84.0					8																	141549525		2203	4300	6503	141618707	SO:0001583	missense	27161	exon16			AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.2063G>A	8.37:g.141549525C>T	ENSP00000220592:p.Arg688His		141618707	NM_001164623	Q8TCZ5|Q8WV58|Q96ID1	Missense_Mutation	SNP	ENST00000220592.5	37	CCDS6380.1	.	.	.	.	.	.	.	.	.	.	C	33	5.195662	0.94960	.	.	ENSG00000123908	ENST00000220592;ENST00000519980	T;T	0.35789	1.29;1.29	5.09	5.09	0.68999	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.69611	0.3130	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.77792	-0.2455	10	0.87932	D	0	0.472	18.8564	0.92254	0.0:1.0:0.0:0.0	.	688;688	Q9UKV8-2;Q9UKV8	.;AGO2_HUMAN	H	688	ENSP00000220592:R688H;ENSP00000430176:R688H	ENSP00000220592:R688H	R	-	2	0	EIF2C2	141618707	1.000000	0.71417	0.945000	0.38365	0.911000	0.54048	7.755000	0.85180	2.512000	0.84698	0.655000	0.94253	CGT		0.567	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4		
DLGAP2	9228	broad.mit.edu	37	8	1497423	1497423	+	Silent	SNP	C	C	T	rs537073910		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr8:1497423C>T	ENST00000421627.2	+	2	698	c.564C>T	c.(562-564)caC>caT	p.H188H		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	267					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)		p.H210H(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		ACCACCACCACGCCCACCACG	0.672													C|||	1	0.000199681	0.0	0.0	5008	,	,		14995	0.0		0.0	False		,,,				2504	0.001				p.H188H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C564T	8						.						18.0	26.0	23.0					8																	1497423		2189	4291	6480	1484830	SO:0001819	synonymous_variant	9228	exon2			AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.564C>T	8.37:g.1497423C>T			1484830	NM_004745	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Silent	SNP	ENST00000421627.2	37	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	C	0.545	-0.852065	0.02651	.	.	ENSG00000198010	ENST00000520901	.	.	.	5.57	-0.336	0.12658	.	.	.	.	.	T	0.50973	0.1647	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38499	-0.9658	4	.	.	.	-6.4899	5.7453	0.18116	0.0:0.3228:0.186:0.4911	.	.	.	.	M	205	.	.	T	+	2	0	DLGAP2	1484830	0.908000	0.30866	0.492000	0.27490	0.088000	0.18126	0.161000	0.16481	-0.010000	0.14271	-0.136000	0.14681	ACG		0.672	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745	
CLN8	2055	broad.mit.edu	37	8	1719232	1719232	+	Silent	SNP	G	G	A	rs368792081		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr8:1719232G>A	ENST00000331222.4	+	2	259	c.12G>A	c.(10-12)gcG>gcA	p.A4A		NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	4					adult walking behavior (GO:0007628)|age-dependent response to oxidative stress (GO:0001306)|associative learning (GO:0008306)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|ceramide biosynthetic process (GO:0046513)|ceramide metabolic process (GO:0006672)|cholesterol metabolic process (GO:0008203)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|lipid biosynthetic process (GO:0008610)|lipid transport (GO:0006869)|lysosome organization (GO:0007040)|mitochondrial membrane organization (GO:0007006)|musculoskeletal movement (GO:0050881)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteolysis (GO:0045861)|negative regulation of transferase activity (GO:0051348)|nervous system development (GO:0007399)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|phospholipid metabolic process (GO:0006644)|photoreceptor cell maintenance (GO:0045494)|protein catabolic process (GO:0030163)|regulation of cell size (GO:0008361)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic motor neuron differentiation (GO:0021523)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.A4A(1)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		TGAATCCTGCGAGCGATGGGG	0.552																																					p.A4A	Pancreas(155;338 1942 6138 10888 50612)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G12A	8						.						69.0	69.0	69.0					8																	1719232		2203	4300	6503	1706639	SO:0001819	synonymous_variant	2055	exon2			AF123761	CCDS5956.1	8p23.3	2014-09-17			ENSG00000182372	ENSG00000182372			2079	protein-coding gene	gene with protein product		607837	"""chromosome 8 open reading frame 61"""	EPMR, C8orf61		10508524	Standard	NM_018941		Approved	FLJ39417	uc003wpo.4	Q9UBY8	OTTHUMG00000090343	ENST00000331222.4:c.12G>A	8.37:g.1719232G>A			1706639	NM_018941	Q86U71|Q96I95	Silent	SNP	ENST00000331222.4	37	CCDS5956.1																																																																																				0.552	CLN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206715.2	NM_018941	
CSMD1	64478	broad.mit.edu	37	8	3076907	3076907	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr8:3076907G>T	ENST00000520002.1	-	30	5100	c.4545C>A	c.(4543-4545)aaC>aaA	p.N1515K	CSMD1_ENST00000539096.1_Missense_Mutation_p.N1514K|CSMD1_ENST00000542608.1_Missense_Mutation_p.N1514K|CSMD1_ENST00000602723.1_Missense_Mutation_p.N1515K|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602557.1_Missense_Mutation_p.N1515K|CSMD1_ENST00000400186.3_Missense_Mutation_p.N1515K|CSMD1_ENST00000537824.1_Missense_Mutation_p.N1514K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1515	CUB 9. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.N1514K(1)|p.N1243K(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)		TGAGGGGGCTGTTGGAATCTT	0.468																																					p.Q1515K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4543A	8						.						39.0	42.0	41.0					8																	3076907		1836	4087	5923	3064314	SO:0001583	missense	64478	exon29					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.4545C>A	8.37:g.3076907G>T	ENSP00000430733:p.Asn1515Lys		3064314	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.40|13.40	2.225597|2.225597	0.39300|0.39300	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.17213|.	2.29;2.29;2.29;2.29;2.29|.	5.48|5.48	3.66|3.66	0.41972|0.41972	CUB (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.57888|0.57888	0.2084|0.2084	L|L	0.42529|0.42529	1.33|1.33	0.49582|0.49582	D|D	0.999801|0.999801	D;P;D|.	0.76494|.	0.999;0.948;0.987|.	D;P;D|.	0.83275|.	0.996;0.842;0.918|.	T|T	0.55283|0.55283	-0.8165|-0.8165	10|5	0.34782|.	T|.	0.22|.	.|.	13.006|13.006	0.58705|0.58705	0.1387:0.0:0.8613:0.0|0.1387:0.0:0.8613:0.0	.|.	1515;1515;1515|.	E5RIG2;Q96PZ7;Q96PZ7-4|.	.;CSMD1_HUMAN;.|.	K|K	1515;1515;1377;1514;1514;1514|995	ENSP00000383047:N1515K;ENSP00000430733:N1515K;ENSP00000441462:N1514K;ENSP00000446243:N1514K;ENSP00000441675:N1514K|.	ENSP00000320445:N1377K|.	N|Q	-|-	3|1	2|0	CSMD1|CSMD1	3064314|3064314	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.366000|0.366000	0.29705|0.29705	2.612000|2.612000	0.46343|0.46343	1.442000|1.442000	0.47568|0.47568	-0.300000|-0.300000	0.09419|0.09419	AAC|CAG		0.468	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
SGK223	157285	broad.mit.edu	37	8	8233878	8233878	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr8:8233878G>A	ENST00000520004.1	-	3	2305	c.2041C>T	c.(2041-2043)Cag>Tag	p.Q681*	SGK223_ENST00000330777.4_Nonsense_Mutation_p.Q681*			Q86YV5	SG223_HUMAN		683							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.Q681*(1)									TTGCTGTTCTGCCCAGAGGAG	0.562																																					p.Q681X	GBM(34;731 755 10259 33573 33867)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2041T	8						.						142.0	163.0	156.0					8																	8233878		2004	4176	6180	8271288	SO:0001587	stop_gained	157285	exon2																														ENST00000520004.1:c.2041C>T	8.37:g.8233878G>A	ENSP00000428054:p.Gln681*		8271288	NM_001080826	Q8N3N5	Nonsense_Mutation	SNP	ENST00000520004.1	37	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	G	41	8.957873	0.99016	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	.	.	.	5.42	4.54	0.55810	.	0.850803	0.10038	N	0.723793	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	9.1958	0.37226	0.0759:0.1477:0.7764:0.0	.	.	.	.	X	681	.	ENSP00000330930:Q681X	Q	-	1	0	AC068353.1	8271288	0.246000	0.23909	0.177000	0.23020	0.716000	0.41182	2.647000	0.46639	1.431000	0.47355	0.655000	0.94253	CAG		0.562	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1		
MFHAS1	9258	broad.mit.edu	37	8	8748671	8748671	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr8:8748671C>T	ENST00000276282.6	-	1	2484	c.1898G>A	c.(1897-1899)cGc>cAc	p.R633H		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	633	Roc. {ECO:0000255|PROSITE- ProRule:PRU00758}.							p.R633H(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		TCGTAAGTGGCGCGGGTCCCT	0.582																																					p.R633H	Melanoma(103;1201 2045 17515 28966)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1898A	8						.						76.0	63.0	67.0					8																	8748671		2203	4300	6503	8786081	SO:0001583	missense	9258	exon1			AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"""leucine rich repeat containing 65"", ""malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"""	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.1898G>A	8.37:g.8748671C>T	ENSP00000276282:p.Arg633His		8786081	NM_004225	Q96CI0	Missense_Mutation	SNP	ENST00000276282.6	37	CCDS34844.1	.	.	.	.	.	.	.	.	.	.	C	4.951	0.176646	0.09443	.	.	ENSG00000147324	ENST00000276282	T	0.80123	-1.34	5.28	1.12	0.20585	ROC GTPase (1);	0.475428	0.20979	N	0.082241	T	0.64227	0.2579	L	0.29908	0.895	0.30461	N	0.774281	B	0.13594	0.008	B	0.06405	0.002	T	0.55398	-0.8147	10	0.42905	T	0.14	.	3.8919	0.09122	0.2748:0.4001:0.2511:0.0741	.	633	Q9Y4C4	MFHA1_HUMAN	H	633	ENSP00000276282:R633H	ENSP00000276282:R633H	R	-	2	0	MFHAS1	8786081	0.246000	0.23909	0.053000	0.19242	0.643000	0.38383	0.483000	0.22292	0.316000	0.23135	0.655000	0.94253	CGC		0.582	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	NM_004225	
SLC7A2	6542	broad.mit.edu	37	8	17419501	17419501	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr8:17419501C>T	ENST00000494857.1	+	11	1771	c.1553C>T	c.(1552-1554)gCc>gTc	p.A518V	SLC7A2_ENST00000004531.10_Missense_Mutation_p.A558V|SLC7A2_ENST00000398090.3_Missense_Mutation_p.A557V|SLC7A2_ENST00000470360.1_Missense_Mutation_p.A557V|SLC7A2_ENST00000522656.1_Missense_Mutation_p.A518V	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	518					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)	p.A518V(1)|p.A557V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GGAGTTCATGCCATCACCAGG	0.562																																					p.A518V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1553T	8						.						158.0	135.0	143.0					8																	17419501		2203	4300	6503	17463793	SO:0001583	missense	6542	exon10			D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"""Solute carriers"""	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.1553C>T	8.37:g.17419501C>T	ENSP00000419140:p.Ala518Val		17463793	NM_001008539	B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	ENST00000494857.1	37	CCDS34852.1	.	.	.	.	.	.	.	.	.	.	C	8.122	0.781125	0.16120	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	D;D;D;D;D	0.88586	-2.24;-2.24;-2.4;-2.26;-2.4	4.96	4.07	0.47477	.	0.311875	0.37715	N	0.001975	D	0.82838	0.5124	L	0.55481	1.735	0.09310	N	0.999994	B;B;B	0.29671	0.254;0.008;0.151	B;B;B	0.28385	0.089;0.016;0.059	T	0.67635	-0.5620	10	0.16896	T	0.51	.	7.3134	0.26488	0.0:0.7134:0.1734:0.1131	.	558;557;518	P52569-3;P52569-2;P52569	.;.;CTR2_HUMAN	V	518;518;557;558;557	ENSP00000419140:A518V;ENSP00000430464:A518V;ENSP00000419873:A557V;ENSP00000004531:A558V;ENSP00000381164:A557V	ENSP00000004531:A558V	A	+	2	0	SLC7A2	17463793	0.604000	0.26932	0.005000	0.12908	0.005000	0.04900	2.227000	0.42972	1.433000	0.47394	-0.176000	0.13171	GCC		0.562	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046	
POLR3D	661	broad.mit.edu	37	8	22106744	22106744	+	Silent	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr8:22106744C>A	ENST00000397802.4	+	6	1058	c.843C>A	c.(841-843)acC>acA	p.T281T	POLR3D_ENST00000306433.4_Silent_p.T281T			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	281					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|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)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.T281T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		AGCCACCCACCCAGGACATCA	0.592																																					p.T281T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C843A	8						.						68.0	61.0	63.0					8																	22106744		2203	4300	6503	22162689	SO:0001819	synonymous_variant	661	exon7			M17754	CCDS34858.1	8q21	2013-01-21	2003-04-01	2003-04-04	ENSG00000168495	ENSG00000168495		"""RNA polymerase subunits"""	1080	protein-coding gene	gene with protein product		187280	"""BN51 (BHK21) temperature sensitivity complementing"""	BN51T		12391170, 11279001	Standard	NM_001722		Approved	TSBN51, RPC4	uc003xbl.3	P05423	OTTHUMG00000163778	ENST00000397802.4:c.843C>A	8.37:g.22106744C>A			22162689	NM_001722	Q6FI28|Q9BPV7|Q9BPZ1|Q9BXB3	Silent	SNP	ENST00000397802.4	37	CCDS34858.1																																																																																				0.592	POLR3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375434.2	NM_001722	
PIWIL2	55124	broad.mit.edu	37	8	22161625	22161625	+	Missense_Mutation	SNP	C	C	T	rs368245312		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr8:22161625C>T	ENST00000454009.2	+	11	1782	c.1273C>T	c.(1273-1275)Cgt>Tgt	p.R425C	PIWIL2_ENST00000521356.1_Missense_Mutation_p.R425C|PIWIL2_ENST00000356766.6_Missense_Mutation_p.R425C	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	425	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				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.R425C(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)		ATATAACAATCGTACCTATCG	0.393																																					p.R425C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1273T	8						.	C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	191.0	156.0	168.0		1273,1273	5.9	1.0	8		168	0,8600		0,0,4300	no	missense,missense	PIWIL2	NM_001135721.1,NM_018068.3	180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	425/974,425/974	22161625	1,13005	2203	4300	6503	22217570	SO:0001583	missense	55124	exon11			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.1273C>T	8.37:g.22161625C>T	ENSP00000406956:p.Arg425Cys		22217570	NM_018068	A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.533346	0.85812	2.27E-4	0.0	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.11604	2.76;2.76;2.76	5.87	5.87	0.94306	Argonaute/Dicer protein, PAZ (4);	0.048691	0.85682	D	0.000000	T	0.35480	0.0933	M	0.86097	2.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.63957	0.92;0.92	T	0.07158	-1.0787	10	0.87932	D	0	-16.8437	14.8203	0.70068	0.1446:0.8554:0.0:0.0	.	425;425	E7ECA4;Q8TC59	.;PIWL2_HUMAN	C	425	ENSP00000349208:R425C;ENSP00000428267:R425C;ENSP00000406956:R425C	ENSP00000349208:R425C	R	+	1	0	PIWIL2	22217570	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.513000	0.67037	2.941000	0.99782	0.655000	0.94253	CGT		0.393	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1		
TEX15	56154	broad.mit.edu	37	8	30700137	30700137	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr8:30700137A>G	ENST00000256246.2	-	1	6471	c.6397T>C	c.(6397-6399)Tcc>Ccc	p.S2133P		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2133					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.S2133P(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)		TTAAGTTCGGAAACAGCAGTC	0.353																																					p.S2133P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T6397C	8						.						64.0	65.0	65.0					8																	30700137		2203	4299	6502	30819679	SO:0001583	missense	56154	exon1			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.6397T>C	8.37:g.30700137A>G	ENSP00000256246:p.Ser2133Pro		30819679	NM_031271		Missense_Mutation	SNP	ENST00000256246.2	37	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	A	11.69	1.713540	0.30413	.	.	ENSG00000133863	ENST00000256246	T	0.13307	2.6	5.56	4.39	0.52855	.	0.125321	0.38272	N	0.001744	T	0.30541	0.0768	L	0.56769	1.78	0.30336	N	0.786222	D	0.89917	1.0	D	0.74674	0.984	T	0.09037	-1.0693	10	0.87932	D	0	.	10.9309	0.47217	0.9228:0.0:0.0772:0.0	.	2133	Q9BXT5	TEX15_HUMAN	P	2133	ENSP00000256246:S2133P	ENSP00000256246:S2133P	S	-	1	0	TEX15	30819679	1.000000	0.71417	1.000000	0.80357	0.230000	0.25150	2.806000	0.47947	2.113000	0.64589	0.482000	0.46254	TCC		0.353	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		
ADAM18	8749	broad.mit.edu	37	8	39525652	39525652	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr8:39525652G>T	ENST00000265707.5	+	14	1507	c.1462G>T	c.(1462-1464)Gcc>Tcc	p.A488S	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.A464S	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	488	Cys-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A488S(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GTTGGGAACTGCCTATTGCTA	0.383																																					p.A488S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1462T	8						.						239.0	211.0	220.0					8																	39525652		2203	4300	6503	39644809	SO:0001583	missense	8749	exon14			AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.1462G>T	8.37:g.39525652G>T	ENSP00000265707:p.Ala488Ser		39644809	NM_014237	B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	ENST00000265707.5	37	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622829	0.66787	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000522198	T;T	0.23348	1.91;1.91	5.5	3.63	0.41609	ADAM, cysteine-rich (2);	0.147957	0.31734	N	0.007144	T	0.29783	0.0744	M	0.64676	1.99	0.80722	D	1	P;P	0.42248	0.733;0.774	B;P	0.46885	0.395;0.53	T	0.03121	-1.1070	10	0.33141	T	0.24	.	6.8995	0.24275	0.0886:0.0:0.7386:0.1728	.	464;488	Q9Y3Q7-2;Q9Y3Q7	.;ADA18_HUMAN	S	488;464;420	ENSP00000265707:A488S;ENSP00000369195:A464S	ENSP00000265707:A488S	A	+	1	0	ADAM18	39644809	0.842000	0.29525	0.997000	0.53966	0.973000	0.67179	3.605000	0.54088	1.499000	0.48617	0.555000	0.69702	GCC		0.383	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237	
MCM4	4173	broad.mit.edu	37	8	48887423	48887423	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr8:48887423A>G	ENST00000262105.2	+	14	2475	c.2266A>G	c.(2266-2268)Att>Gtt	p.I756V	MCM4_ENST00000523944.1_Missense_Mutation_p.I756V	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	756					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)	p.I756V(1)		biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				AGTTGAAGCCATTGATGTGGA	0.493																																					p.I756V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2266G	8						.						144.0	150.0	148.0					8																	48887423		2203	4300	6503	49049976	SO:0001583	missense	4173	exon15				CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.2266A>G	8.37:g.48887423A>G	ENSP00000262105:p.Ile756Val		49049976	NM_182746	Q8NEH1|Q99658	Missense_Mutation	SNP	ENST00000262105.2	37	CCDS6143.1	.	.	.	.	.	.	.	.	.	.	A	11.33	1.606536	0.28623	.	.	ENSG00000104738	ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229;ENST00000518382;ENST00000524276;ENST00000521261	T;T	0.10960	2.82;2.82	5.91	-0.728	0.11162	.	0.143107	0.64402	N	0.000006	T	0.02649	0.0080	N	0.01019	-1.045	0.45979	D	0.998799	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.47799	-0.9089	10	0.26408	T	0.33	-9.5132	6.6293	0.22847	0.6455:0.1137:0.2409:0.0	.	756;756	B3KMX0;P33991	.;MCM4_HUMAN	V	756;756;743;716;31;40;40	ENSP00000430194:I756V;ENSP00000262105:I756V	ENSP00000262105:I756V	I	+	1	0	MCM4	49049976	0.998000	0.40836	0.675000	0.29917	0.992000	0.81027	2.353000	0.44089	-0.328000	0.08539	0.455000	0.32223	ATT		0.493	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914	
SNAI2	6591	broad.mit.edu	37	8	49833765	49833765	+	Silent	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr8:49833765G>A	ENST00000396822.1	-	2	417	c.60C>T	c.(58-60)agC>agT	p.S20S	SNAI2_ENST00000020945.1_Silent_p.S20S			O43623	SNAI2_HUMAN	snail family zinc finger 2	20	SNAG domain. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|cartilage morphogenesis (GO:0060536)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to ionizing radiation (GO:0071479)|desmosome disassembly (GO:0035921)|embryo development (GO:0009790)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|epithelium development (GO:0060429)|negative regulation of anoikis (GO:2000811)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter (GO:1900387)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|negative regulation of vitamin D receptor signaling pathway (GO:0070563)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone acetylation (GO:0035066)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of chemokine production (GO:0032642)|regulation of osteoblast differentiation (GO:0045667)|regulation of tight junction assembly (GO:2000810)|sensory perception of sound (GO:0007605)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)	p.S20S(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				TGTCCAGTTCGCTGTAGTTTG	0.473																																					p.S20S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C60T	8						.						153.0	152.0	152.0					8																	49833765		2203	4300	6503	49996318	SO:0001819	synonymous_variant	6591	exon1			U97060	CCDS6146.1	8q11.21	2013-05-23	2013-05-23	2002-02-28	ENSG00000019549	ENSG00000019549		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	11094	protein-coding gene	gene with protein product		602150	"""slug homolog, zinc finger protein (chicken)"", ""snail homolog 2 (Drosophila)"""	SLUG		9337409, 9721220	Standard	NM_003068		Approved	SLUGH1, SNAIL2	uc003xqp.3	O43623	OTTHUMG00000149912	ENST00000396822.1:c.60C>T	8.37:g.49833765G>A			49996318	NM_003068	B2R6P6|Q53FC1	Silent	SNP	ENST00000396822.1	37	CCDS6146.1																																																																																				0.473	SNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313873.2	NM_003068	
MYBL1	4603	broad.mit.edu	37	8	67492559	67492559	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr8:67492559C>A	ENST00000522677.3	-	9	1320	c.910G>T	c.(910-912)Gat>Tat	p.D304Y	MYBL1_ENST00000517885.1_Intron|MYBL1_ENST00000524176.2_Missense_Mutation_p.D304Y	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	304	Negative regulatory domain. {ECO:0000250}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.D304Y(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			ATGTTATCATCCATGAGGAAA	0.378																																					p.D304Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G910T	8						.						63.0	59.0	60.0					8																	67492559		1864	4095	5959	67655113	SO:0001583	missense	4603	exon9			X13294	CCDS47867.1, CCDS55241.1	8q22	2013-07-09	2013-07-09		ENSG00000185697	ENSG00000185697			7547	protein-coding gene	gene with protein product		159405					Standard	XM_005251251		Approved	AMYB, A-myb	uc003xwj.3	P10243	OTTHUMG00000164559	ENST00000522677.3:c.910G>T	8.37:g.67492559C>A	ENSP00000429633:p.Asp304Tyr		67655113	NM_001080416	E7EW29|Q495F9	Missense_Mutation	SNP	ENST00000522677.3	37	CCDS47867.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.486385	0.84854	.	.	ENSG00000185697	ENST00000522677;ENST00000524176	T;T	0.20598	2.54;2.06	5.34	5.34	0.76211	.	0.232996	0.43919	D	0.000519	T	0.41396	0.1157	L	0.53249	1.67	0.58432	D	0.999999	D;D;D	0.67145	0.996;0.989;0.996	P;P;P	0.61201	0.851;0.726;0.885	T	0.18999	-1.0319	10	0.62326	D	0.03	-18.7354	19.036	0.92978	0.0:1.0:0.0:0.0	.	304;303;304	Q495F9;Q495G0;P10243	.;.;MYBA_HUMAN	Y	304	ENSP00000429633:D304Y;ENSP00000428011:D304Y	ENSP00000429633:D304Y	D	-	1	0	MYBL1	67655113	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.522000	0.73783	2.481000	0.83766	0.655000	0.94253	GAT		0.378	MYBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379221.3	XM_034274	
SLCO5A1	81796	broad.mit.edu	37	8	70744246	70744246	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr8:70744246delG	ENST00000260126.4	-	2	1369	c.663delC	c.(661-663)cccfs	p.P221fs	RP11-159H10.3_ENST00000501104.2_RNA|RP11-159H10.3_ENST00000533300.1_RNA|SLCO5A1_ENST00000530307.1_Frame_Shift_Del_p.P221fs|SLCO5A1_ENST00000524945.1_Frame_Shift_Del_p.P221fs|RP11-159H10.3_ENST00000528800.2_RNA|SLCO5A1_ENST00000528658.1_5'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	221						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.Y222fs*6(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GGATCTGGTAGGGGGGCGAGA	0.677																																					p.P221fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.663delC	8						.						22.0	26.0	25.0					8																	70744246		2203	4300	6503	70906800	SO:0001589	frameshift_variant	81796	exon2			AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.663delC	8.37:g.70744246delG	ENSP00000260126:p.Pro221fs		70906800	NM_030958	A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Frame_Shift_Del	DEL	ENST00000260126.4	37	CCDS6205.1																																																																																				0.677	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958	
PRDM14	63978	broad.mit.edu	37	8	70981732	70981732	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr8:70981732C>T	ENST00000276594.2	-	2	565	c.364G>A	c.(364-366)Gcg>Acg	p.A122T		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	122					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.A122T(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)			CTGGCACCCGCGTACTCGTGG	0.607																																					p.A122T	NSCLC(129;99 1813 5906 40656 46114)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G364A	8						.						38.0	31.0	33.0					8																	70981732		2203	4300	6503	71144286	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.364G>A	8.37:g.70981732C>T	ENSP00000276594:p.Ala122Thr		71144286	NM_024504	Q86UX9	Missense_Mutation	SNP	ENST00000276594.2	37	CCDS6206.1	.	.	.	.	.	.	.	.	.	.	c	3.751	-0.051556	0.07362	.	.	ENSG00000147596	ENST00000276594	T	0.11063	2.81	5.1	-10.2	0.00374	.	2.591810	0.01145	N	0.006291	T	0.02610	0.0079	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27262	-1.0079	10	0.06099	T	0.92	6.4681	4.9183	0.13856	0.1597:0.3735:0.3483:0.1185	.	122	Q9GZV8	PRD14_HUMAN	T	122	ENSP00000276594:A122T	ENSP00000276594:A122T	A	-	1	0	PRDM14	71144286	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.382000	0.00490	-2.683000	0.00407	-1.149000	0.01842	GCG		0.607	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1		
LRRCC1	85444	broad.mit.edu	37	8	86021986	86021986	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr8:86021986delA	ENST00000360375.3	+	2	410	c.261delA	c.(259-261)acafs	p.T87fs	LRRCC1_ENST00000414626.2_Frame_Shift_Del_p.T67fs	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	87					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.K68fs*5(1)|p.K88fs*5(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						ACACACTGACAAAACTGTGCA	0.318																																					p.T87fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.261delA	8						.						63.0	57.0	59.0					8																	86021986		1843	4078	5921	86209238	SO:0001589	frameshift_variant	85444	exon2			BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.261delA	8.37:g.86021986delA	ENSP00000353538:p.Thr87fs		86209238	NM_033402	B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Frame_Shift_Del	DEL	ENST00000360375.3	37	CCDS43750.1																																																																																				0.318	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402	
CA13	377677	broad.mit.edu	37	8	86178924	86178924	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr8:86178924delT	ENST00000321764.3	+	4	744	c.442delT	c.(442-444)tttfs	p.F148fs	CA13_ENST00000517298.1_3'UTR	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	148					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|myelin sheath (GO:0043209)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.L149fs*65(1)		large_intestine(1)|lung(6)	7					Zonisamide(DB00909)	CTTGGGAGTGTTTTTACAGGT	0.413																																					p.F148fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.442delT	8						.						118.0	105.0	109.0					8																	86178924		2203	4300	6503	86366176	SO:0001589	frameshift_variant	377677	exon4			BC052602	CCDS6236.1	8q21	2004-05-10				ENSG00000185015		"""Carbonic anhydrases"""	14914	protein-coding gene	gene with protein product		611436				14600151	Standard	NM_198584		Approved	CAXIII, FLJ37995, MGC59868	uc003ydg.2	Q8N1Q1		ENST00000321764.3:c.442delT	8.37:g.86178924delT	ENSP00000318912:p.Phe148fs		86366176	NM_198584		Frame_Shift_Del	DEL	ENST00000321764.3	37	CCDS6236.1																																																																																				0.413	CA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381066.1	NM_198584	
DCAF4L2	138009	broad.mit.edu	37	8	88885187	88885187	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr8:88885187G>A	ENST00000319675.3	-	1	1109	c.1013C>T	c.(1012-1014)aCg>aTg	p.T338M		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	338								p.T338M(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CCAGATTCTCGTGTAGCAGTC	0.577																																					p.T338M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1013T	8						.						78.0	86.0	84.0					8																	88885187		2203	4300	6503	88954303	SO:0001583	missense	138009	exon1			AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.1013C>T	8.37:g.88885187G>A	ENSP00000316496:p.Thr338Met		88954303	NM_152418		Missense_Mutation	SNP	ENST00000319675.3	37	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.862744	0.71949	.	.	ENSG00000176566	ENST00000319675	T	0.70282	-0.47	1.49	-0.835	0.10775	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	T	0.74207	0.3686	M	0.78916	2.43	0.35500	D	0.799753	D	0.56521	0.976	P	0.55508	0.777	T	0.74156	-0.3756	10	0.59425	D	0.04	.	5.5945	0.17319	0.3411:0.0:0.6589:0.0	.	338	Q8NA75	DC4L2_HUMAN	M	338	ENSP00000316496:T338M	ENSP00000316496:T338M	T	-	2	0	DCAF4L2	88954303	1.000000	0.71417	0.101000	0.21167	0.888000	0.51559	6.093000	0.71422	-0.533000	0.06323	0.467000	0.42956	ACG		0.577	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418	
MATN2	4147	broad.mit.edu	37	8	98954016	98954016	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr8:98954016T>C	ENST00000520016.1	+	3	848	c.724T>C	c.(724-726)Tgc>Cgc	p.C242R	MATN2_ENST00000524308.1_Missense_Mutation_p.C242R|MATN2_ENST00000254898.5_Missense_Mutation_p.C242R|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000521689.1_Missense_Mutation_p.C242R			O00339	MATN2_HUMAN	matrilin 2	242	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.C242R(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			GGCCCATATGTGCAGCACCCT	0.507																																					p.C242R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T724C	8						.						91.0	94.0	93.0					8																	98954016		2127	4249	6376	99023192	SO:0001583	missense	4147	exon4			U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.724T>C	8.37:g.98954016T>C	ENSP00000430487:p.Cys242Arg		99023192	NM_030583	A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	ENST00000520016.1	37	CCDS55264.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.19|19.19	3.778976|3.778976	0.70107|0.70107	.|.	.|.	ENSG00000132561|ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000520016|ENST00000518154	D;D;D;D|.	0.99966|.	-10.09;-10.09;-10.09;-10.09|.	5.24|5.24	5.24|5.24	0.73138|0.73138	Epidermal growth factor-like (1);EGF-like calcium-binding (1);|.	0.000000|.	0.64402|.	D|.	0.000004|.	D|D	0.87696|0.87696	0.6242|0.6242	H|H	0.97587|0.97587	4.035|4.035	0.80722|0.80722	D|D	1|1	P;P;D;D|.	0.56968|.	0.922;0.905;0.978;0.973|.	P;P;P;P|.	0.62491|.	0.702;0.576;0.903;0.877|.	D|D	0.91600|0.91600	0.5294|0.5294	10|5	0.87932|.	D|.	0|.	-19.4912|-19.4912	13.3637|13.3637	0.60671|0.60671	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	242;242;242;242|.	E9PF03;O00339-2;O00339;Q8N2G3|.	.;.;MATN2_HUMAN;.|.	R|A	242|65	ENSP00000429977:C242R;ENSP00000254898:C242R;ENSP00000430221:C242R;ENSP00000430487:C242R|.	ENSP00000254898:C242R|.	C|V	+|+	1|2	0|0	MATN2|MATN2	99023192|99023192	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.879000|0.879000	0.50718|0.50718	5.221000|5.221000	0.65272|0.65272	1.984000|1.984000	0.57885|0.57885	0.459000|0.459000	0.35465|0.35465	TGC|GTG		0.507	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1		
ERICH5	203111	broad.mit.edu	37	8	99102098	99102098	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr8:99102098C>T	ENST00000318528.3	+	2	1212	c.853C>T	c.(853-855)Cca>Tca	p.P285S	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	ERIC5_HUMAN		285	Glu-rich.							p.P285S(1)		kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			TATGAATGATCCATTCCATAA	0.453																																					p.P285S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C853T	8						.						102.0	94.0	96.0					8																	99102098		2203	4300	6503	99171274	SO:0001583	missense	203111	exon2																														ENST00000318528.3:c.853C>T	8.37:g.99102098C>T	ENSP00000315614:p.Pro285Ser		99171274	NM_173549	G3V1K4|Q8N1L8	Missense_Mutation	SNP	ENST00000318528.3	37	CCDS34929.1	.	.	.	.	.	.	.	.	.	.	C	0.919	-0.716575	0.03206	.	.	ENSG00000177459	ENST00000318528	T	0.21543	2.0	4.83	-2.85	0.05734	.	1.691380	0.03151	N	0.167961	T	0.05640	0.0148	N	0.02142	-0.665	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.22277	-1.0221	10	0.05620	T	0.96	0.55	1.1553	0.01794	0.1446:0.2457:0.1477:0.462	.	285	Q6P6B1	CH047_HUMAN	S	285	ENSP00000315614:P285S	ENSP00000315614:P285S	P	+	1	0	C8orf47	99171274	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.669000	0.05262	-0.542000	0.06249	-0.136000	0.14681	CCA		0.453	C8orf47-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380465.1		
LY6K	54742	broad.mit.edu	37	8	143784593	143784593	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr8:143784593G>A	ENST00000292430.6	+	3	719	c.302G>A	c.(301-303)cGg>cAg	p.R101Q	LY6K_ENST00000561179.1_Missense_Mutation_p.R159Q|LY6K_ENST00000519387.1_Silent_p.A90A|CTD-2292P10.4_ENST00000520572.1_RNA|LY6K_ENST00000519390.1_3'UTR|LY6K_ENST00000522591.1_3'UTR			Q17RY6	LY6K_HUMAN	lymphocyte antigen 6 complex, locus K	101	UPAR/Ly6.					anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R159Q(1)		NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GAGGAGAAGCGGTTTCTCCTG	0.458																																					p.R101Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G302A	8						.						84.0	84.0	84.0					8																	143784593		2203	4300	6503	143781595	SO:0001583	missense	54742	exon3			AK092545	CCDS6385.1, CCDS6385.2, CCDS59114.1	8q24.3	2009-08-06				ENSG00000160886			24225	protein-coding gene	gene with protein product	"""cancer/testis antigen 97"""	615093				12516096	Standard	NM_017527		Approved	HSJ001348, FLJ35226, CT97	uc011ljv.2	Q17RY6		ENST00000292430.6:c.302G>A	8.37:g.143784593G>A	ENSP00000292430:p.Arg101Gln		143781595	NM_017527	G3V116|O15227|Q9BVD7	Missense_Mutation	SNP	ENST00000292430.6	37	CCDS6385.2	.	.	.	.	.	.	.	.	.	.	G	0.045	-1.270183	0.01421	.	.	ENSG00000160886	ENST00000292430	.	.	.	2.88	-5.75	0.02384	.	9.265610	0.00357	N	0.000038	T	0.17365	0.0417	N	0.14661	0.345	0.09310	N	1	B	0.23058	0.079	B	0.08055	0.003	T	0.12167	-1.0558	9	0.22109	T	0.4	.	2.7474	0.05271	0.4289:0.122:0.333:0.1161	.	101	Q17RY6	LY6K_HUMAN	Q	159	.	ENSP00000292430:R159Q	R	+	2	0	LY6K	143781595	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.048000	0.00629	-3.224000	0.00211	-3.819000	0.00019	CGG		0.458	LY6K-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379893.2	NM_017527	
SLC44A1	23446	broad.mit.edu	37	9	108118212	108118213	+	Intron	INS	-	-	TG	rs149701367		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr9:108118212_108118213insTG	ENST00000374720.3	+	6	747				SLC44A1_ENST00000374724.1_Intron|SLC44A1_ENST00000343170.7_5'UTR|SLC44A1_ENST00000374723.1_Intron	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1						choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	gtgtgtgtgtatgtgtgtgtgt	0.441																																					.												.	.	0			.	9						.																																			107158034	SO:0001627	intron_variant	23446	.			AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"""CD molecules"", ""Solute carriers"""	18798	protein-coding gene	gene with protein product		606105	"""CDW92 antigen"""	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.501-280->TG	9.37:g.108118221_108118222dupTG			107158033	.	A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	De_novo_Start_InFrame	INS	ENST00000374720.3	37	CCDS6763.1																																																																																				0.441	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1	NM_080546	
ALDOB	229	broad.mit.edu	37	9	104189822	104189822	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr9:104189822C>A	ENST00000374855.4	-	5	606	c.482G>T	c.(481-483)aGc>aTc	p.S161I	ALDOB_ENST00000468981.3_Intron	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	161					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)	p.S161I(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				GATAGCGAGGCTGGATGGACA	0.567																																					p.S161I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G482T	9						.						118.0	92.0	101.0					9																	104189822		2203	4300	6503	103229643	SO:0001583	missense	229	exon5			X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.482G>T	9.37:g.104189822C>A	ENSP00000363988:p.Ser161Ile		103229643	NM_000035	Q13741|Q13742|Q5T7D6	Missense_Mutation	SNP	ENST00000374855.4	37	CCDS6756.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.520018	0.44866	.	.	ENSG00000136872	ENST00000374855;ENST00000374853;ENST00000430164	D	0.86164	-2.08	6.17	-0.105	0.13601	Aldolase-type TIM barrel (1);	0.793104	0.12880	N	0.431556	T	0.76933	0.4057	N	0.26042	0.785	0.24952	N	0.991784	B	0.25312	0.123	B	0.30782	0.12	T	0.64765	-0.6330	10	0.38643	T	0.18	-0.4681	5.5715	0.17200	0.0:0.3952:0.3259:0.279	.	161	P05062	ALDOB_HUMAN	I	161;88;161	ENSP00000363988:S161I	ENSP00000363986:S88I	S	-	2	0	ALDOB	103229643	0.036000	0.19791	0.794000	0.32065	0.936000	0.57629	0.193000	0.17116	0.274000	0.22072	0.655000	0.94253	AGC		0.567	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053434.2		
ABCA1	19	broad.mit.edu	37	9	107550322	107550322	+	Missense_Mutation	SNP	G	G	A	rs200788099	byFrequency	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr9:107550322G>A	ENST00000374736.3	-	46	6477	c.6083C>T	c.(6082-6084)gCg>gTg	p.A2028V		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2028	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.A2028V(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	TTTCCGAATCGCCCACTCACC	0.448													G|||	3	0.000599042	0.0	0.0014	5008	,	,		20126	0.0		0.001	False		,,,				2504	0.001				p.A2028V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6083T	9	GRCh37	CM080005	ABCA1	M		.						150.0	135.0	140.0					9																	107550322		2203	4300	6503	106590143	SO:0001583	missense	19	exon46			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.6083C>T	9.37:g.107550322G>A	ENSP00000363868:p.Ala2028Val		106590143	NM_005502	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	CCDS6762.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	33	5.278961	0.95489	.	.	ENSG00000165029	ENST00000374736	D	0.93712	-3.27	5.84	5.84	0.93424	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.050778	0.85682	D	0.000000	D	0.86594	0.5970	N	0.04132	-0.27	0.80722	D	1	B	0.33612	0.419	B	0.32465	0.146	D	0.85726	0.1328	10	0.56958	D	0.05	.	20.563	0.99327	0.0:0.0:1.0:0.0	.	2028	O95477	ABCA1_HUMAN	V	2028	ENSP00000363868:A2028V	ENSP00000363868:A2028V	A	-	2	0	ABCA1	106590143	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.958000	0.56737	2.937000	0.99478	0.650000	0.86243	GCG		0.448	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502	
ABCA1	19	broad.mit.edu	37	9	107566930	107566930	+	Silent	SNP	C	C	T	rs41277763	byFrequency	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr9:107566930C>T	ENST00000374736.3	-	32	4930	c.4536G>A	c.(4534-4536)acG>acA	p.T1512T		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1512					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.T1512T(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	TCTGCACATACGTCTTCACCA	0.393																																					p.T1512T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4536A	9						.						222.0	203.0	210.0					9																	107566930		2203	4300	6503	106606751	SO:0001819	synonymous_variant	19	exon32			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.4536G>A	9.37:g.107566930C>T			106606751	NM_005502	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Silent	SNP	ENST00000374736.3	37	CCDS6762.1																																																																																				0.393	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502	
C9orf84	158401	broad.mit.edu	37	9	114503807	114503807	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr9:114503807T>C	ENST00000318737.4	-	9	1059	c.931A>G	c.(931-933)Atg>Gtg	p.M311V	C9orf84_ENST00000374283.5_Missense_Mutation_p.M375V|C9orf84_ENST00000394779.3_Missense_Mutation_p.M272V|C9orf84_ENST00000394777.4_Missense_Mutation_p.M272V|C9orf84_ENST00000374287.3_Missense_Mutation_p.M311V	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	311								p.M272V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AATTGCCACATCATGTAGTAT	0.279																																					p.M311V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A931G	9						.						70.0	68.0	69.0					9																	114503807		2202	4300	6502	113543628	SO:0001583	missense	158401	exon9			AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.931A>G	9.37:g.114503807T>C	ENSP00000322108:p.Met311Val		113543628	NM_173521	A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.517462	0.00151	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000374287;ENST00000318737;ENST00000374283	T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84	4.56	-9.01	0.00744	.	1.310540	0.05473	N	0.553361	T	0.21841	0.0526	N	0.12182	0.205	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.04013	0.0;0.0;0.0;0.001	T	0.16719	-1.0393	10	0.13470	T	0.59	12.3583	8.1802	0.31307	0.0:0.146:0.3658:0.4882	.	272;375;311;272	A6PVK7;Q5VXU9-2;Q5VXU9;A2A2V3	.;.;CI084_HUMAN;.	V	272;272;311;311;375	ENSP00000378259:M272V;ENSP00000378257:M272V;ENSP00000363405:M311V;ENSP00000322108:M311V;ENSP00000363401:M375V	ENSP00000322108:M311V	M	-	1	0	C9orf84	113543628	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-2.221000	0.01216	-1.543000	0.01723	-0.479000	0.04858	ATG		0.279	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521	
FKBP15	23307	broad.mit.edu	37	9	115931682	115931682	+	Missense_Mutation	SNP	C	C	T	rs572313532		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr9:115931682C>T	ENST00000238256.3	-	26	3424	c.3307G>A	c.(3307-3309)Gag>Aag	p.E1103K		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	1103					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)		p.E1103K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						TCCCCCTCCTCGGGGTCTGAA	0.572																																					p.E1103K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3307A	9						.						73.0	74.0	74.0					9																	115931682		1929	4139	6068	114971503	SO:0001583	missense	23307	exon26			AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.3307G>A	9.37:g.115931682C>T	ENSP00000238256:p.Glu1103Lys		114971503	NM_015258	Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Missense_Mutation	SNP	ENST00000238256.3	37	CCDS48007.1	.	.	.	.	.	.	.	.	.	.	C	1.256	-0.617110	0.03663	.	.	ENSG00000119321	ENST00000446284;ENST00000238256	T;T	0.20200	2.09;2.09	5.41	-6.68	0.01778	.	.	.	.	.	T	0.09598	0.0236	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.30822	-0.9965	9	0.24483	T	0.36	0.299	4.0809	0.09925	0.1085:0.1173:0.1088:0.6654	.	684;1103	B4DVS2;Q5T1M5	.;FKB15_HUMAN	K	1128;1103	ENSP00000416158:E1128K;ENSP00000238256:E1103K	ENSP00000238256:E1103K	E	-	1	0	FKBP15	114971503	0.002000	0.14202	0.000000	0.03702	0.072000	0.16883	-0.274000	0.08537	-1.654000	0.01499	-0.948000	0.02665	GAG		0.572	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015258	
PRPF4	9128	broad.mit.edu	37	9	116038036	116038036	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr9:116038036C>T	ENST00000374198.4	+	1	115	c.13C>T	c.(13-15)Cga>Tga	p.R5*	PRPF4_ENST00000374199.4_Nonsense_Mutation_p.R5*|CDC26_ENST00000490408.1_5'Flank|CDC26_ENST00000374206.3_5'Flank	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4	5					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)		p.R5*(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						GGCTTCCTCGCGAGCCTCTTC	0.672																																					p.R5X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C13T	9						.						32.0	32.0	32.0					9																	116038036		2202	4298	6500	115077857	SO:0001587	stop_gained	9128	exon1			AF001687	CCDS6791.1, CCDS59142.1	9q31-q33	2013-10-03	2013-10-03		ENSG00000136875	ENSG00000136875		"""WD repeat domain containing"""	17349	protein-coding gene	gene with protein product	"""PRP4/STK/WD splicing factor"", ""U4/U6 small nuclear ribonucleoprotein Prp4"""	607795	"""PRP4 pre-mRNA processing factor 4 homolog (yeast)"""			9257651, 9404889	Standard	NM_004697		Approved	Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60	uc004bgx.3	O43172	OTTHUMG00000020517	ENST00000374198.4:c.13C>T	9.37:g.116038036C>T	ENSP00000363313:p.Arg5*		115077857	NM_004697	O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	Nonsense_Mutation	SNP	ENST00000374198.4	37	CCDS6791.1	.	.	.	.	.	.	.	.	.	.	C	37	6.303296	0.97458	.	.	ENSG00000136875	ENST00000374199;ENST00000374198	.	.	.	5.28	4.39	0.52855	.	0.409686	0.20322	N	0.094603	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7438	0.40435	0.0:0.9071:0.0:0.0929	.	.	.	.	X	5	.	ENSP00000363313:R5X	R	+	1	2	PRPF4	115077857	0.985000	0.35326	0.682000	0.30024	0.012000	0.07955	3.509000	0.53386	1.468000	0.48064	-0.140000	0.14226	CGA		0.672	PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053708.2	NM_004697	
HDHD3	81932	broad.mit.edu	37	9	116136478	116136478	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr9:116136478A>G	ENST00000238379.5	-	2	1054	c.157T>C	c.(157-159)Tac>Cac	p.Y53H	HDHD3_ENST00000374180.3_Missense_Mutation_p.Y53H|HDHD3_ENST00000485934.1_5'UTR	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3	53						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)	p.Y53H(1)		large_intestine(2)|liver(1)	3						TGAGCCCTGTATGCCTGCCTG	0.667																																					p.Y53H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T157C	9						.						51.0	42.0	45.0					9																	116136478		2203	4300	6503	115176299	SO:0001583	missense	81932	exon2			AK097067	CCDS6793.1	9q33.1	2006-04-12	2004-08-09	2004-08-12	ENSG00000119431	ENSG00000119431			28171	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 158"""	C9orf158		12477932	Standard	NM_031219		Approved	MGC12904	uc004bhi.1	Q9BSH5	OTTHUMG00000020524	ENST00000238379.5:c.157T>C	9.37:g.116136478A>G	ENSP00000238379:p.Tyr53His		115176299	NM_031219	B2RD47	Missense_Mutation	SNP	ENST00000238379.5	37	CCDS6793.1	.	.	.	.	.	.	.	.	.	.	A	8.505	0.865248	0.17250	.	.	ENSG00000119431	ENST00000238379;ENST00000374180	T;T	0.05996	3.36;3.36	5.95	2.14	0.27477	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.374770	0.31061	N	0.008338	T	0.12178	0.0296	M	0.88570	2.965	0.23459	N	0.997639	B	0.20550	0.046	B	0.27262	0.078	T	0.18272	-1.0342	10	0.56958	D	0.05	-4.017	6.4652	0.21977	0.6902:0.0:0.0666:0.2431	.	53	Q9BSH5	HDHD3_HUMAN	H	53	ENSP00000238379:Y53H;ENSP00000363295:Y53H	ENSP00000238379:Y53H	Y	-	1	0	HDHD3	115176299	0.999000	0.42202	0.000000	0.03702	0.022000	0.10575	4.414000	0.59802	0.102000	0.17638	0.533000	0.62120	TAC		0.667	HDHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053731.1	NM_031219	
RGS3	5998	broad.mit.edu	37	9	116346280	116346280	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr9:116346280G>T	ENST00000374140.2	+	21	2797	c.2588G>T	c.(2587-2589)aGc>aTc	p.S863I	RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000374134.3_Missense_Mutation_p.S184I|RGS3_ENST00000462143.1_Missense_Mutation_p.S184I|RGS3_ENST00000350696.5_Missense_Mutation_p.S863I|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000343817.5_Missense_Mutation_p.S582I	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	863					inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.S759I(1)|p.S863I(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CGGCTGGATAGCACCTACAGC	0.657																																					p.S863I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2588T	9						.						53.0	53.0	53.0					9																	116346280		2203	4300	6503	115386101	SO:0001583	missense	5998	exon21			AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.2588G>T	9.37:g.116346280G>T	ENSP00000363255:p.Ser863Ile		115386101	NM_144488	A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	G	8.884	0.952414	0.18431	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000343817;ENST00000462143;ENST00000374134	T;T;T;T;T	0.58506	0.87;0.87;0.37;0.33;0.33	5.43	3.49	0.39957	.	0.477834	0.23635	N	0.046083	T	0.57198	0.2037	L	0.29908	0.895	0.19300	N	0.999971	D;B;P;B;B;P	0.56521	0.976;0.418;0.919;0.178;0.294;0.543	P;B;P;B;B;B	0.58454	0.839;0.076;0.483;0.053;0.034;0.096	T	0.48364	-0.9042	10	0.72032	D	0.01	.	8.9191	0.35601	0.0818:0.1475:0.7707:0.0	.	202;759;184;582;753;863	B4DWF9;P49796-6;Q6ZV17;P49796-4;B3KWG8;P49796	.;.;.;.;.;RGS3_HUMAN	I	863;863;582;184;184	ENSP00000363255:S863I;ENSP00000259406:S863I;ENSP00000340284:S582I;ENSP00000420356:S184I;ENSP00000363249:S184I	ENSP00000340284:S582I	S	+	2	0	RGS3	115386101	0.498000	0.26075	0.110000	0.21437	0.025000	0.11179	2.116000	0.41930	1.240000	0.43803	0.563000	0.77884	AGC		0.657	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790	
COL27A1	85301	broad.mit.edu	37	9	116931299	116931299	+	Silent	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr9:116931299C>A	ENST00000356083.3	+	3	1855	c.1464C>A	c.(1462-1464)tcC>tcA	p.S488S		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	488	Pro-rich.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.S488S(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CTGCTTTATCCTCATCTCCTG	0.592																																					p.S488S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1464A	9						.						174.0	201.0	191.0					9																	116931299		2203	4300	6503	115971120	SO:0001819	synonymous_variant	85301	exon3			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.1464C>A	9.37:g.116931299C>A			115971120	NM_032888	Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	CCDS6802.1																																																																																				0.592	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888	
TNC	3371	broad.mit.edu	37	9	117788926	117788926	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr9:117788926C>T	ENST00000350763.4	-	26	6629	c.6218G>A	c.(6217-6219)cGg>cAg	p.R2073Q	TNC_ENST00000341037.4_Missense_Mutation_p.R1891Q|TNC_ENST00000345230.3_Missense_Mutation_p.R1436Q|TNC_ENST00000346706.3_Missense_Mutation_p.R1527Q|TNC_ENST00000340094.3_Missense_Mutation_p.R1709Q|TNC_ENST00000423613.2_Missense_Mutation_p.R1800Q|TNC_ENST00000535648.1_Missense_Mutation_p.R1618Q|TNC_ENST00000542877.1_Missense_Mutation_p.R1710Q|TNC_ENST00000537320.1_Missense_Mutation_p.R1436Q	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	2073	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				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.R2073Q(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						CAGGTCCACCCGGAGCTCGTA	0.577																																					p.R2073Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6218A	9						.						78.0	65.0	69.0					9																	117788926		2203	4300	6503	116828747	SO:0001583	missense	3371	exon26				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.6218G>A	9.37:g.117788926C>T	ENSP00000265131:p.Arg2073Gln		116828747	NM_002160	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	C	37	5.980403	0.97168	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39	5.61	5.61	0.85477	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.93275	0.7857	H	0.95260	3.645	0.36683	D	0.879144	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96235	0.9171	10	0.87932	D	0	.	19.6248	0.95674	0.0:1.0:0.0:0.0	.	1800;2073	E9PC84;P24821	.;TENA_HUMAN	Q	1709;1618;1527;1436;2073;1891;1800;1436;1710	ENSP00000344400:R1709Q;ENSP00000438152:R1618Q;ENSP00000344555:R1527Q;ENSP00000345861:R1436Q;ENSP00000265131:R2073Q;ENSP00000339553:R1891Q;ENSP00000411406:R1800Q;ENSP00000443478:R1436Q;ENSP00000442242:R1710Q	ENSP00000344400:R1709Q	R	-	2	0	TNC	116828747	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.631000	0.89168	0.655000	0.94253	CGG		0.577	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160	
PAPPA	5069	broad.mit.edu	37	9	118950379	118950379	+	Silent	SNP	C	C	T	rs139489198	byFrequency	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr9:118950379C>T	ENST00000328252.3	+	2	1731	c.1362C>T	c.(1360-1362)aaC>aaT	p.N454N	PAPPA_ENST00000534838.1_5'Flank	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	454	Metalloprotease.				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.N454N(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						AGCAGCACAACGGGGTGTGTG	0.567													C|||	3	0.000599042	0.0023	0.0	5008	,	,		19302	0.0		0.0	False		,,,				2504	0.0				p.N454N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1362T	9						.	C		7,4399	12.9+/-30.5	0,7,2196	106.0	76.0	86.0		1362	-8.1	0.6	9	dbSNP_134	86	0,8600		0,0,4300	no	coding-synonymous	PAPPA	NM_002581.3		0,7,6496	TT,TC,CC		0.0,0.1589,0.0538		454/1628	118950379	7,12999	2203	4300	6503	117990200	SO:0001819	synonymous_variant	5069	exon2				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.1362C>T	9.37:g.118950379C>T			117990200	NM_002581	B1AMF9|Q08371|Q68G52|Q9UDK7	Silent	SNP	ENST00000328252.3	37	CCDS6813.1																																																																																				0.567	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581	
CNTRL	11064	broad.mit.edu	37	9	123932025	123932025	+	Silent	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr9:123932025T>C	ENST00000373855.1	+	39	6467	c.6207T>C	c.(6205-6207)gcT>gcC	p.A2069A	CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373850.1_Silent_p.A1517A|CNTRL_ENST00000238341.5_Silent_p.A2069A			Q7Z7A1	CNTRL_HUMAN	centriolin	2069	Required for centrosome localization.|Sufficient for interaction with HOOK2.				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.A2069A(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GAAAGAAAGCTGAGAAGCAGG	0.517																																					p.A2069A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T6207C	9						.						79.0	87.0	84.0					9																	123932025		2203	4300	6503	122971846	SO:0001819	synonymous_variant	11064	exon37			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.6207T>C	9.37:g.123932025T>C			122971846	NM_007018	A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Silent	SNP	ENST00000373855.1	37	CCDS35118.1																																																																																				0.517	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018	
DAB2IP	153090	broad.mit.edu	37	9	124536619	124536619	+	Silent	SNP	C	C	T	rs199878545		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr9:124536619C>T	ENST00000408936.3	+	13	3230	c.3048C>T	c.(3046-3048)gaC>gaT	p.D1016D	DAB2IP_ENST00000259371.2_Silent_p.D988D|DAB2IP_ENST00000309989.1_Silent_p.D892D			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	1016					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.D892D(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						TGTTAGAAGACGAGGGCCTGG	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		17322	0.001		0.0	False		,,,				2504	0.0				p.D988D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2964T	9						.						40.0	42.0	41.0					9																	124536619		2203	4300	6503	123576440	SO:0001819	synonymous_variant	153090	exon13			AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.3048C>T	9.37:g.124536619C>T			123576440	NM_032552	A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Silent	SNP	ENST00000408936.3	37																																																																																					0.597	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552	
TTLL11	158135	broad.mit.edu	37	9	124801551	124801551	+	Splice_Site	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr9:124801551C>A	ENST00000373776.3	-	2	1016	c.829G>T	c.(829-831)Ggc>Tgc	p.G277C	TTLL11_ENST00000321582.5_Splice_Site_p.G277C|TTLL11_ENST00000474723.1_5'UTR	NM_194252.2	NP_919228.2	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	277	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)	p.G277C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						CAGCAGATACCTGGAAACTTG	0.408																																					p.G277C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G829T	9						.						98.0	90.0	93.0					9																	124801551		2203	4300	6503	123841372	SO:0001630	splice_region_variant	158135	exon2			AF521886	CCDS6834.2, CCDS48012.1	9q34.11	2013-02-14	2005-07-28	2005-07-28	ENSG00000175764	ENSG00000175764		"""Tubulin tyrosine ligase-like family"""	18113	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 20"""	C9orf20		15890843	Standard	NM_001139442		Approved	bA244O19.1	uc011lyl.2	Q8NHH1	OTTHUMG00000020597	ENST00000373776.3:c.829+1G>T	9.37:g.124801551C>A			123841372	NM_001139442		Missense_Mutation	SNP	ENST00000373776.3	37	CCDS6834.2	.	.	.	.	.	.	.	.	.	.	C	27.3	4.817411	0.90790	.	.	ENSG00000175764	ENST00000321582;ENST00000373776	T;T	0.06068	3.35;3.35	5.94	5.94	0.96194	.	1.743070	0.04707	U	0.416955	T	0.36166	0.0957	M	0.84219	2.685	0.80722	D	1	D;P	0.89917	1.0;0.804	D;P	0.78314	0.991;0.771	T	0.00653	-1.1625	9	.	.	.	.	18.9229	0.92532	0.0:1.0:0.0:0.0	.	277;277	F8W6M1;Q8NHH1	.;TTL11_HUMAN	C	277	ENSP00000321346:G277C;ENSP00000362881:G277C	.	G	-	1	0	TTLL11	123841372	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.157000	0.77461	2.816000	0.96949	0.561000	0.74099	GGC		0.408	TTLL11-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053907.1	XM_088486	Missense_Mutation
LHX6	26468	broad.mit.edu	37	9	124976613	124976613	+	Silent	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr9:124976613T>C	ENST00000373755.2	-	5	753	c.645A>G	c.(643-645)caA>caG	p.Q215Q	LHX6_ENST00000559895.1_Silent_p.Q28Q|LHX6_ENST00000340587.3_Silent_p.Q244Q|LHX6_ENST00000464484.2_5'Flank|LHX6_ENST00000394319.4_Silent_p.Q244Q|LHX6_ENST00000373754.2_Silent_p.Q215Q|LHX6_ENST00000541397.2_Silent_p.Q233Q|LHX6_ENST00000482062.1_5'Flank	NM_001242334.1	NP_001229263.1	Q9UPM6	LHX6_HUMAN	LIM homeobox 6	215					cell maturation (GO:0048469)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|forebrain neuron fate commitment (GO:0021877)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.Q244Q(1)		endometrium(2)|kidney(1)|large_intestine(5)	8						CCGGCTTGGGTTGACTGTCCT	0.687																																					p.Q244Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A732G	9						.						33.0	30.0	31.0					9																	124976613		2203	4300	6503	124016434	SO:0001819	synonymous_variant	26468	exon6			AB031041	CCDS6837.2, CCDS6838.2, CCDS56583.1, CCDS56584.1, CCDS59144.1	9q33.2	2011-06-20			ENSG00000106852	ENSG00000106852		"""Homeoboxes / LIM class"""	21735	protein-coding gene	gene with protein product		608215				10393337	Standard	NM_014368		Approved	LHX6.1	uc004blx.4	Q9UPM6	OTTHUMG00000020601	ENST00000373755.2:c.645A>G	9.37:g.124976613T>C			124016434	NM_199160	A6PVQ1|A6PVQ2|A8K1B2|B7Z4D0|H0YN76|Q5T7S7|Q5T7S8|Q9NTK3|Q9UPM5	Silent	SNP	ENST00000373755.2	37	CCDS56583.1																																																																																				0.687	LHX6-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053924.2	NM_014368	
OR1J4	26219	broad.mit.edu	37	9	125282010	125282010	+	Silent	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr9:125282010G>T	ENST00000340750.1	+	1	591	c.591G>T	c.(589-591)ctG>ctT	p.L197L		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	197						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L197L(1)		large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						TCAATGAGCTGGTCATTTTCA	0.483																																					p.L197L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G591T	9						.						151.0	129.0	137.0					9																	125282010		2203	4300	6503	124321831	SO:0001819	synonymous_variant	26219	exon1			X64979	CCDS35122.1	9q33.2	2013-09-20			ENSG00000239590	ENSG00000239590		"""GPCR / Class A : Olfactory receptors"""	8211	protein-coding gene	gene with protein product						1370859	Standard	NM_001004452		Approved	HTPCRX01, HSHTPCRX01	uc011lyw.2	Q8NGS1	OTTHUMG00000020606	ENST00000340750.1:c.591G>T	9.37:g.125282010G>T			124321831	NM_001004452	A3KFM0|Q6IEZ3|Q96R89	Silent	SNP	ENST00000340750.1	37	CCDS35122.1																																																																																				0.483	OR1J4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053936.1		
OR1B1	347169	broad.mit.edu	37	9	125391070	125391070	+	Missense_Mutation	SNP	A	A	G	rs114075976	byFrequency	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr9:125391070A>G	ENST00000304833.3	-	1	782	c.745T>C	c.(745-747)Tcc>Ccc	p.S249P	RP11-64P14.7_ENST00000419604.1_RNA|RP11-64P14.7_ENST00000431442.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S249P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						GTGAGGTGGGATCCACAGGTG	0.547													A|||	19	0.00379393	0.0144	0.0	5008	,	,		19933	0.0		0.0	False		,,,				2504	0.0				p.S249P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T745C	9						.		PRO/SER	48,4358	49.6+/-84.7	1,46,2156	85.0	77.0	79.0		745	4.7	1.0	9	dbSNP_132	79	0,8600		0,0,4300	yes	missense	OR1B1	NM_001004450.1	74	1,46,6456	GG,GA,AA		0.0,1.0894,0.3691	probably-damaging	249/319	125391070	48,12958	2203	4300	6503	124430891	SO:0001583	missense	347169	exon1			AC006313	CCDS35126.1	9q33.2	2012-08-09			ENSG00000171484	ENSG00000171484		"""GPCR / Class A : Olfactory receptors"""	8181	protein-coding gene	gene with protein product							Standard	NM_001004450		Approved	OR9-B	uc011lyz.2	Q8NGR6	OTTHUMG00000020616	ENST00000304833.3:c.745T>C	9.37:g.125391070A>G	ENSP00000303151:p.Ser249Pro		124430891	NM_001004450	Q6IFN3	Missense_Mutation	SNP	ENST00000304833.3	37	CCDS35126.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	a	17.35	3.368159	0.61513	0.010894	0.0	ENSG00000171484	ENST00000304833	T	0.39592	1.07	4.72	4.72	0.59763	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43919	D	0.000508	T	0.58821	0.2149	M	0.82433	2.59	0.34726	D	0.729255	D	0.89917	1.0	D	0.91635	0.999	T	0.77493	-0.2567	10	0.87932	D	0	-15.1173	13.6419	0.62255	1.0:0.0:0.0:0.0	.	249	Q8NGR6	OR1B1_HUMAN	P	249	ENSP00000303151:S249P	ENSP00000303151:S249P	S	-	1	0	OR1B1	124430891	0.770000	0.28543	0.994000	0.49952	0.976000	0.68499	1.245000	0.32790	2.104000	0.64026	0.524000	0.50904	TCC		0.547	OR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053947.2	NM_001004450	
RABGAP1	23637	broad.mit.edu	37	9	125852090	125852090	+	Silent	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr9:125852090A>G	ENST00000373647.4	+	20	2612	c.2478A>G	c.(2476-2478)gaA>gaG	p.E826E	RABGAP1_ENST00000373643.5_Silent_p.E165E	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	826					cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)	p.E826E(1)|p.E754E(1)		breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						CCATGAGGGAACAGCAGGCCC	0.413																																					p.E826E												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A2478G	9						.						99.0	94.0	96.0					9																	125852090		2203	4300	6503	124891911	SO:0001819	synonymous_variant	23637	exon20			AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.2478A>G	9.37:g.125852090A>G			124891911	NM_012197	B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Silent	SNP	ENST00000373647.4	37	CCDS6848.2																																																																																				0.413	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197	
RPL35	11224	broad.mit.edu	37	9	127620318	127620318	+	Missense_Mutation	SNP	C	C	T	rs541571516		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr9:127620318C>T	ENST00000348462.3	-	4	299	c.251G>A	c.(250-252)cGg>cAg	p.R84Q	RPL35_ENST00000373570.4_3'UTR	NM_007209.3	NP_009140.1	P42766	RL35_HUMAN	ribosomal protein L35	84					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.R84Q(1)		breast(1)|large_intestine(1)|lung(1)|ovary(1)	4				GBM - Glioblastoma multiforme(294;0.182)		CTTCTTAGGCCGCAGGTCCAG	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		19525	0.001		0.0	False		,,,				2504	0.0				p.R84Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G251A	9						.						28.0	25.0	26.0					9																	127620318		2203	4300	6503	126660139	SO:0001583	missense	11224	exon4			U12465	CCDS6858.1	9q34.1	2011-04-06			ENSG00000136942	ENSG00000136942		"""L ribosomal proteins"""	10344	protein-coding gene	gene with protein product	"""60S ribosomal protein L35"""					11401437	Standard	NM_007209		Approved	L35	uc004boy.1	P42766	OTTHUMG00000020659	ENST00000348462.3:c.251G>A	9.37:g.127620318C>T	ENSP00000259469:p.Arg84Gln		126660139	NM_007209	A8K4V7|Q4VBY5|Q5JTN5|Q6IBC7|Q96QJ7|Q9BYF4	Missense_Mutation	SNP	ENST00000348462.3	37	CCDS6858.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079907	0.94050	.	.	ENSG00000136942	ENST00000348462	.	.	.	5.6	5.6	0.85130	.	0.046296	0.85682	N	0.000000	T	0.73210	0.3558	H	0.96662	3.86	0.80722	D	1	D	0.53745	0.962	B	0.34779	0.189	D	0.84947	0.0869	9	0.87932	D	0	.	18.9733	0.92724	0.0:1.0:0.0:0.0	.	84	P42766	RL35_HUMAN	Q	84	.	ENSP00000259469:R84Q	R	-	2	0	RPL35	126660139	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.448000	0.80631	2.806000	0.96561	0.655000	0.94253	CGG		0.632	RPL35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054035.1	NM_007209	
PPP6C	5537	broad.mit.edu	37	9	127911967	127911967	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr9:127911967C>T	ENST00000373547.4	-	7	1002	c.903G>A	c.(901-903)acG>acA	p.T301T	PPP6C_ENST00000373546.3_Silent_p.T154T|PPP6C_ENST00000451402.1_Silent_p.T338T|PPP6C_ENST00000415905.1_Silent_p.T279T	NM_002721.4	NP_002712.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	301					G1/S transition of mitotic cell cycle (GO:0000082)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.T301T(2)		NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						GGAAATATGGCGTTGTCGTTC	0.418																																					p.T279T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G837A	9						.						115.0	99.0	105.0					9																	127911967		2203	4300	6503	126951788	SO:0001819	synonymous_variant	5537	exon6			AF035158	CCDS6861.1, CCDS48018.1, CCDS48019.1	9q33.3	2010-03-17			ENSG00000119414	ENSG00000119414		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9323	protein-coding gene	gene with protein product		612725				9143513	Standard	NM_002721		Approved	PP6	uc004bpg.4	O00743	OTTHUMG00000020671	ENST00000373547.4:c.903G>A	9.37:g.127911967C>T			126951788	NM_001123369	B2R5V6|B7Z2W9|B7Z5K9|Q5U0A2|Q9UIC9	Silent	SNP	ENST00000373547.4	37	CCDS6861.1																																																																																				0.418	PPP6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054060.1	NM_016294	
ZER1	10444	broad.mit.edu	37	9	131502228	131502228	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr9:131502228C>T	ENST00000291900.2	-	13	2430	c.2024G>A	c.(2023-2025)cGg>cAg	p.R675Q		NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	675					protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)	p.R675Q(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						GATGTTTCTCCGAGAGTTTAT	0.582																																					p.R675Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2024A	9						.						153.0	130.0	138.0					9																	131502228		2203	4300	6503	130542049	SO:0001583	missense	10444	exon13			X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"""ZYG11 cell cycle regulator family"""	30960	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 60"", ""zyg-11 homolog B (C. elegans)-like"", ""zer-1 homolog (C. elegans)"""	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.2024G>A	9.37:g.131502228C>T	ENSP00000291900:p.Arg675Gln		130542049	NM_006336	O00156|Q5T272|Q5T273	Missense_Mutation	SNP	ENST00000291900.2	37	CCDS6910.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.868674	0.91587	.	.	ENSG00000160445	ENST00000291900	T	0.45668	0.89	4.72	4.72	0.59763	Armadillo-like helical (1);Armadillo-type fold (1);	0.177305	0.46758	D	0.000267	T	0.54382	0.1855	L	0.47716	1.5	0.80722	D	1	D	0.69078	0.997	D	0.67725	0.953	T	0.43734	-0.9373	10	0.18276	T	0.48	-28.3448	16.8443	0.85976	0.0:1.0:0.0:0.0	.	675	Q7Z7L7	ZER1_HUMAN	Q	675	ENSP00000291900:R675Q	ENSP00000291900:R675Q	R	-	2	0	ZER1	130542049	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	5.421000	0.66447	2.427000	0.82271	0.650000	0.86243	CGG		0.582	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054491.1	NM_006336	
TOR1A	1861	broad.mit.edu	37	9	132584973	132584973	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr9:132584973C>T	ENST00000351698.4	-	2	379	c.331G>A	c.(331-333)Gtc>Atc	p.V111I	TOR1A_ENST00000473084.1_5'UTR	NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	111	Interaction with SNAPIN.				ATP catabolic process (GO:0006200)|cell adhesion (GO:0007155)|chaperone mediated protein folding requiring cofactor (GO:0051085)|chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|ER-associated misfolded protein catabolic process (GO:0071712)|intermediate filament cytoskeleton organization (GO:0045104)|neuron projection development (GO:0031175)|nuclear envelope organization (GO:0006998)|nuclear membrane organization (GO:0071763)|organelle organization (GO:0006996)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|protein deneddylation (GO:0000338)|protein homooligomerization (GO:0051260)|protein localization to nucleus (GO:0034504)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of protein localization to cell surface (GO:2000008)|response to oxidative stress (GO:0006979)|synaptic vesicle transport (GO:0048489)|wound healing, spreading of cells (GO:0044319)	cell junction (GO:0030054)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cytoskeletal protein binding (GO:0008092)|kinesin binding (GO:0019894)|unfolded protein binding (GO:0051082)	p.V111I(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				ATCTTGCTGACGAAATTTTTG	0.468																																					p.V111I												.	.	2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|large_intestine(1)	c.G331A	9						.						230.0	200.0	210.0					9																	132584973		2203	4300	6503	131624794	SO:0001583	missense	1861	exon2			AF007871	CCDS6930.1	9q32-q34	2008-07-21	2004-11-24	2004-11-26	ENSG00000136827	ENSG00000136827			3098	protein-coding gene	gene with protein product		605204	"""dystonia 1, torsion (autosomal dominant; torsin A)"""	DYT1		10644435	Standard	NM_000113		Approved	DQ2	uc004byl.3	O14656	OTTHUMG00000020794	ENST00000351698.4:c.331G>A	9.37:g.132584973C>T	ENSP00000345719:p.Val111Ile		131624794	NM_000113	B2RB58|Q53Y64|Q96CA0	Missense_Mutation	SNP	ENST00000351698.4	37	CCDS6930.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.778976	0.31502	.	.	ENSG00000136827	ENST00000351698	T	0.54479	0.57	5.21	3.32	0.38043	.	0.294306	0.37530	N	0.002053	T	0.50188	0.1601	L	0.58428	1.81	0.45342	D	0.998333	D;B	0.57257	0.979;0.337	P;B	0.46320	0.512;0.133	T	0.48885	-0.8995	10	0.54805	T	0.06	-27.0265	8.478	0.33025	0.0:0.7579:0.0:0.2421	.	111;111	O14656-2;O14656	.;TOR1A_HUMAN	I	111	ENSP00000345719:V111I	ENSP00000345719:V111I	V	-	1	0	TOR1A	131624794	1.000000	0.71417	0.582000	0.28627	0.061000	0.15899	4.683000	0.61679	0.562000	0.29204	0.561000	0.74099	GTC		0.468	TOR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054611.1	NM_000113	
DBH	1621	broad.mit.edu	37	9	136507432	136507432	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr9:136507432T>C	ENST00000393056.2	+	3	602	c.590T>C	c.(589-591)cTc>cCc	p.L197P		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	197					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)	p.L197P(1)		central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	AGGGTGCAGCTCCTGAAGCCC	0.627																																					p.L197P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T590C	9						.						56.0	54.0	54.0					9																	136507432		2203	4300	6503	135497253	SO:0001583	missense	1621	exon3			X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.590T>C	9.37:g.136507432T>C	ENSP00000376776:p.Leu197Pro		135497253	NM_000787	Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	T	19.23	3.787005	0.70337	.	.	ENSG00000123454	ENST00000393056;ENST00000371880;ENST00000263611	T;T	0.60424	0.21;0.19	4.97	4.97	0.65823	DOMON domain (1);PHM/PNGase F domain (1);	0.061993	0.64402	D	0.000003	T	0.77968	0.4210	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.82406	-0.0473	10	0.87932	D	0	-20.0068	14.6455	0.68756	0.0:0.0:0.0:1.0	.	197	P09172	DOPO_HUMAN	P	197;134;134	ENSP00000376776:L197P;ENSP00000263611:L134P	ENSP00000263611:L134P	L	+	2	0	DBH	135497253	1.000000	0.71417	1.000000	0.80357	0.608000	0.37181	7.458000	0.80787	1.871000	0.54225	0.402000	0.26972	CTC		0.627	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787	
SARDH	1757	broad.mit.edu	37	9	136597566	136597566	+	Silent	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr9:136597566G>A	ENST00000371872.4	-	3	746	c.489C>T	c.(487-489)gaC>gaT	p.D163D	SARDH_ENST00000422262.2_De_novo_Start_OutOfFrame|SARDH_ENST00000439388.1_Silent_p.D163D|SARDH_ENST00000298628.5_Silent_p.D163D|SARDH_ENST00000371867.1_Silent_p.D74D	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	163					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)	p.D163D(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TCTTGTACTCGTCCAGGCGCT	0.672																																					p.D163D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C489T	9						.						95.0	93.0	94.0					9																	136597566		2203	4300	6503	135587387	SO:0001819	synonymous_variant	1757	exon3				CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.489C>T	9.37:g.136597566G>A			135587387	NM_007101	B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Silent	SNP	ENST00000371872.4	37	CCDS6978.1																																																																																				0.672	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1		
BRD3	8019	broad.mit.edu	37	9	136901334	136901334	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr9:136901334G>A	ENST00000303407.7	-	10	1941	c.1756C>T	c.(1756-1758)Cgg>Tgg	p.R586W	BRD3_ENST00000473349.1_5'UTR|BRD3_ENST00000371834.2_3'UTR|LINC00094_ENST00000605164.1_RNA	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	586	NET. {ECO:0000255|PROSITE- ProRule:PRU00857}.				chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)	p.R586W(2)	BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CCGGGCAGCCGGTTGATGTCC	0.597			T	C15orf55	lethal midline carcinoma of young people																																p.R586W			Dom	yes		9	9q34	8019	bromodomain containing 3		E	.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C1756T	9						.						69.0	66.0	67.0					9																	136901334		2203	4300	6503	135891155	SO:0001583	missense	8019	exon10				CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"""RING3-like"""	601541	"""bromodomain-containing 3"""			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.1756C>T	9.37:g.136901334G>A	ENSP00000305918:p.Arg586Trp		135891155	NM_007371	B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Missense_Mutation	SNP	ENST00000303407.7	37	CCDS6980.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.740310	0.69304	.	.	ENSG00000169925	ENST00000303407;ENST00000540795	T	0.14766	2.48	5.16	2.26	0.28386	.	0.000000	0.64402	D	0.000008	T	0.32133	0.0819	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.01566	-1.1323	10	0.87932	D	0	-16.2993	8.4605	0.32925	0.0727:0.0:0.6546:0.2727	.	586	Q15059	BRD3_HUMAN	W	586;265	ENSP00000305918:R586W	ENSP00000305918:R586W	R	-	1	2	BRD3	135891155	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	3.504000	0.53347	0.178000	0.19917	-0.448000	0.05591	CGG		0.597	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371	
NDOR1	27158	broad.mit.edu	37	9	140110118	140110118	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr9:140110118C>T	ENST00000344894.5	+	11	1379	c.1296C>T	c.(1294-1296)gtC>gtT	p.V432V	NDOR1_ENST00000371521.4_Silent_p.V432V|NDOR1_ENST00000427047.2_Silent_p.V398V|NDOR1_ENST00000458322.2_Silent_p.V425V	NM_001144028.1|NM_014434.2	NP_001137500.1|NP_055249.1			NADPH dependent diflavin oxidoreductase 1									p.V432V(1)		breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TAGGACCTGTCCGGGTGCCCC	0.617																																					p.V425V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1275T	9						.						52.0	56.0	55.0					9																	140110118		2202	4300	6502	139229939	SO:0001819	synonymous_variant	27158	exon11			BC015735	CCDS7036.1, CCDS48061.1, CCDS48062.1, CCDS48063.1	9q34.3	2008-02-05			ENSG00000188566	ENSG00000188566			29838	protein-coding gene	gene with protein product	"""NADPH dependent FMN and FAD containing oxidoreductase"""	606073				10625700, 12631275	Standard	XM_005266066		Approved	NR1, bA350O14.9	uc004clx.3	Q9UHB4	OTTHUMG00000020986	ENST00000344894.5:c.1296C>T	9.37:g.140110118C>T			139229939	NM_001144028		Silent	SNP	ENST00000344894.5	37	CCDS7036.1																																																																																				0.617	NDOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254704.1	NM_014434	
ARRDC1	92714	broad.mit.edu	37	9	140507440	140507440	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr9:140507440C>A	ENST00000371421.4	+	2	275	c.211C>A	c.(211-213)Ctg>Atg	p.L71M	ARRDC1_ENST00000491911.1_3'UTR|C9orf37_ENST00000496793.1_5'Flank	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	71						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.L71M(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		CAACAGTTCCCTGTCGCTGGC	0.602																																					p.L71M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C211A	9						.						108.0	87.0	94.0					9																	140507440		2203	4300	6503	139627261	SO:0001583	missense	92714	exon2			AJ420420	CCDS7049.1	9q34.3	2013-10-11			ENSG00000197070	ENSG00000197070			28633	protein-coding gene	gene with protein product	"""alpha-arrestin 1"""					23886940	Standard	XM_005266119		Approved	MGC40555	uc004cns.3	Q8N5I2	OTTHUMG00000020993	ENST00000371421.4:c.211C>A	9.37:g.140507440C>A	ENSP00000360475:p.Leu71Met		139627261	NM_152285		De_novo_Start_OutOfFrame	SNP	ENST00000371421.4	37	CCDS7049.1	.	.	.	.	.	.	.	.	.	.	c	14.36	2.511429	0.44660	.	.	ENSG00000197070	ENST00000371421;ENST00000431925;ENST00000419386	T;T;T	0.14391	2.51;2.51;2.51	5.29	4.19	0.49359	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.147208	0.45361	D	0.000375	T	0.27205	0.0667	L	0.60455	1.87	0.29393	N	0.86248	D;D	0.76494	0.999;0.996	D;D	0.69479	0.964;0.927	T	0.02588	-1.1137	10	0.40728	T	0.16	-4.9153	8.1395	0.31076	0.0:0.8111:0.0:0.1889	.	71;71	Q8N5I2;Q5T370	ARRD1_HUMAN;.	M	71	ENSP00000360475:L71M;ENSP00000406247:L71M;ENSP00000406833:L71M	ENSP00000360475:L71M	L	+	1	2	ARRDC1	139627261	0.022000	0.18835	0.998000	0.56505	0.748000	0.42578	0.233000	0.17911	2.499000	0.84300	0.555000	0.69702	CTG		0.602	ARRDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055358.1	NM_152285	
VLDLR	7436	broad.mit.edu	37	9	2646525	2646525	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr9:2646525C>T	ENST00000382100.3	+	11	2032	c.1676C>T	c.(1675-1677)gCc>gTc	p.A559V	VLDLR_ENST00000382099.2_Missense_Mutation_p.A559V|VLDLR_ENST00000478776.1_3'UTR	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	559					cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.A559V(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		CGAGAGCCTGCCTCCATAGCT	0.468																																					p.A559V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1676T	9						.						80.0	77.0	78.0					9																	2646525		2203	4300	6503	2636525	SO:0001583	missense	7436	exon11				CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"""Low density lipoprotein receptors"""	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.1676C>T	9.37:g.2646525C>T	ENSP00000371532:p.Ala559Val		2636525	NM_001018056	B2RMZ7|D3DRH6|Q5VVF6	Missense_Mutation	SNP	ENST00000382100.3	37	CCDS6446.1	.	.	.	.	.	.	.	.	.	.	C	34	5.387172	0.95988	.	.	ENSG00000147852	ENST00000382100;ENST00000382099;ENST00000382092	D;D	0.96200	-3.94;-3.94	5.46	5.46	0.80206	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.51477	D	0.000100	D	0.96549	0.8874	M	0.69185	2.1	0.80722	D	1	P;P;P	0.46020	0.843;0.871;0.786	P;P;P	0.51945	0.487;0.622;0.685	D	0.96813	0.9598	10	0.87932	D	0	.	19.6657	0.95891	0.0:1.0:0.0:0.0	.	559;559;559	P98155-2;Q5VVF5;P98155	.;.;VLDLR_HUMAN	V	559;559;438	ENSP00000371532:A559V;ENSP00000371531:A559V	ENSP00000371524:A438V	A	+	2	0	VLDLR	2636525	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	4.797000	0.62503	2.733000	0.93635	0.555000	0.69702	GCC		0.468	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2	NM_003383	
RFX3	5991	broad.mit.edu	37	9	3225279	3225279	+	Splice_Site	SNP	A	A	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr9:3225279A>T	ENST00000382004.3	-	18	2324	c.2013T>A	c.(2011-2013)gaT>gaA	p.D671E		NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	671					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.D671E(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		CACTGCCTTCATCTGCACAAA	0.383																																					p.D671E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2013A	9						.						82.0	78.0	80.0					9																	3225279		2203	4300	6503	3215279	SO:0001630	splice_region_variant	5991	exon18			AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.2012-1T>A	9.37:g.3225279A>T			3215279	NM_134428	A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Missense_Mutation	SNP	ENST00000382004.3	37	CCDS6449.1	.	.	.	.	.	.	.	.	.	.	A	13.24	2.177430	0.38413	.	.	ENSG00000080298	ENST00000382004	T	0.38722	1.12	5.76	3.42	0.39159	.	0.000000	0.85682	D	0.000000	T	0.34048	0.0884	L	0.31420	0.93	0.80722	D	1	D	0.56521	0.976	P	0.47603	0.551	T	0.04320	-1.0960	10	0.35671	T	0.21	.	9.594	0.39563	0.8137:0.0:0.1863:0.0	.	671	P48380	RFX3_HUMAN	E	671	ENSP00000371434:D671E	ENSP00000371434:D671E	D	-	3	2	RFX3	3215279	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.088000	0.41663	1.005000	0.39183	0.523000	0.50628	GAT		0.383	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1	NM_002919	Missense_Mutation
KIAA2026	158358	broad.mit.edu	37	9	5921447	5921447	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr9:5921447T>C	ENST00000399933.3	-	8	4548	c.4549A>G	c.(4549-4551)Aca>Gca	p.T1517A	KIAA2026_ENST00000381461.2_Missense_Mutation_p.T1487A	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1517								p.T692A(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		GGGGTTGATGTACCACTAGGA	0.408																																					p.T1517A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4549G	9						.						130.0	124.0	126.0					9																	5921447		1875	4108	5983	5911447	SO:0001583	missense	158358	exon8			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.4549A>G	9.37:g.5921447T>C	ENSP00000382815:p.Thr1517Ala		5911447	NM_001017969	A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37		.	.	.	.	.	.	.	.	.	.	T	1.990	-0.432059	0.04669	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	5.0	1.19	0.21007	.	0.116775	0.38720	N	0.001584	T	0.17789	0.0427	N	0.24115	0.695	0.20563	N	0.999884	B	0.06786	0.001	B	0.08055	0.003	T	0.11036	-1.0604	9	0.35671	T	0.21	-9.2489	1.3707	0.02210	0.1271:0.1681:0.1946:0.5102	.	1517	Q5HYC2	K2026_HUMAN	A	1517;1487	.	ENSP00000370870:T1487A	T	-	1	0	KIAA2026	5911447	1.000000	0.71417	0.992000	0.48379	0.401000	0.30781	0.940000	0.28992	0.042000	0.15717	0.397000	0.26171	ACA		0.408	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969	
FREM1	158326	broad.mit.edu	37	9	14819263	14819263	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr9:14819263delA	ENST00000380880.3	-	14	3298	c.2515delT	c.(2515-2517)tctfs	p.S839fs	FREM1_ENST00000380881.4_Frame_Shift_Del_p.S840fs|FREM1_ENST00000422223.2_Frame_Shift_Del_p.S839fs			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	839					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.S840fs*8(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCGCCCCAAGAAAATGTGCCC	0.428																																					p.S839fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2515delT	9						.						101.0	95.0	97.0					9																	14819263		1894	4130	6024	14809263	SO:0001589	frameshift_variant	158326	exon15			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.2515delT	9.37:g.14819263delA	ENSP00000370262:p.Ser839fs		14809263	NM_144966	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Frame_Shift_Del	DEL	ENST00000380880.3	37	CCDS47952.1																																																																																				0.428	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966	
ELAVL2	1993	broad.mit.edu	37	9	23701564	23701564	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr9:23701564G>A	ENST00000397312.2	-	5	800	c.526C>T	c.(526-528)Cga>Tga	p.R176*	ELAVL2_ENST00000380110.4_Nonsense_Mutation_p.R205*|ELAVL2_ENST00000380117.1_Nonsense_Mutation_p.R176*|ELAVL2_ENST00000223951.6_Nonsense_Mutation_p.R176*|ELAVL2_ENST00000544538.1_Nonsense_Mutation_p.R176*	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	176	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R176*(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		GCCTCAATTCGCTTGTCAAAT	0.443																																					p.R176X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C526T	9						.						185.0	187.0	187.0					9																	23701564		2203	4300	6503	23691564	SO:0001587	stop_gained	1993	exon5			BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"""RNA binding motif (RRM) containing"""	3313	protein-coding gene	gene with protein product	"""Hu antigen B"""	601673	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"""			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.526C>T	9.37:g.23701564G>A	ENSP00000380479:p.Arg176*		23691564	NM_001171197	D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Nonsense_Mutation	SNP	ENST00000397312.2	37	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	G	39	7.640353	0.98406	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598;ENST00000423281;ENST00000440102	.	.	.	5.92	5.92	0.95590	.	0.051555	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0858	0.72151	0.0:0.0:0.8583:0.1417	.	.	.	.	X	176;176;176;176;176;204;41;176	.	ENSP00000223951:R176X	R	-	1	2	ELAVL2	23691564	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.053000	0.41326	2.812000	0.96745	0.563000	0.77884	CGA		0.443	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432	
TEK	7010	broad.mit.edu	37	9	27158089	27158089	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr9:27158089C>T	ENST00000380036.4	+	2	755	c.313C>T	c.(313-315)Cga>Tga	p.R105*	TEK_ENST00000519097.1_Intron|TEK_ENST00000406359.4_Nonsense_Mutation_p.R105*	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	105	Ig-like C2-type 1.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R105*(1)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	CTGTGAAGGGCGAGTTCGAGG	0.468																																					p.R105X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C313T	9						.						153.0	134.0	140.0					9																	27158089		2203	4300	6503	27148089	SO:0001587	stop_gained	7010	exon2			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.313C>T	9.37:g.27158089C>T	ENSP00000369375:p.Arg105*		27148089	NM_000459	A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Nonsense_Mutation	SNP	ENST00000380036.4	37	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	C	38	6.805656	0.97853	.	.	ENSG00000120156	ENST00000380036;ENST00000346448;ENST00000406359	.	.	.	5.92	3.89	0.44902	.	0.208574	0.23762	N	0.044806	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	12.3417	0.55097	0.5678:0.4322:0.0:0.0	.	.	.	.	X	105	.	ENSP00000343716:R105X	R	+	1	2	TEK	27148089	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.053000	0.49901	1.461000	0.47929	0.655000	0.94253	CGA		0.468	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3		
CD72	971	broad.mit.edu	37	9	35611902	35611902	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr9:35611902G>T	ENST00000396757.1	-	8	1013	c.849C>A	c.(847-849)ttC>ttA	p.F283L	CD72_ENST00000259633.4_Missense_Mutation_p.F283L|CD72_ENST00000490239.1_5'UTR			P21854	CD72_HUMAN	CD72 molecule	283	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor binding (GO:0005102)|transmembrane signaling receptor activity (GO:0004888)	p.F283L(1)		large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GTGAATTTAAGAAGTAGTAAG	0.448											OREG0019172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.F283L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C849A	9						.						138.0	124.0	129.0					9																	35611902		2203	4300	6503	35601902	SO:0001583	missense	971	exon7				CCDS6581.1	9p	2008-07-21	2006-03-28		ENSG00000137101	ENSG00000137101		"""CD molecules"""	1696	protein-coding gene	gene with protein product		107272	"""CD72 antigen"""			2044654, 1711157	Standard	NM_001782		Approved	LYB2, CD72b	uc003zxb.2	P21854	OTTHUMG00000019870	ENST00000396757.1:c.849C>A	9.37:g.35611902G>T	ENSP00000379980:p.Phe283Leu	856	35601902	NM_001782		Missense_Mutation	SNP	ENST00000396757.1	37	CCDS6581.1	.	.	.	.	.	.	.	.	.	.	G	0.694	-0.793465	0.02862	.	.	ENSG00000137101	ENST00000396757;ENST00000396759;ENST00000259633	T;T	0.24350	1.86;1.86	2.34	0.25	0.15535	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	20.784200	0.00166	N	0.000000	T	0.14056	0.0340	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.14727	-1.0462	10	0.11485	T	0.65	5.7863	4.4464	0.11600	0.0:0.2538:0.4867:0.2595	.	283	P21854	CD72_HUMAN	L	283	ENSP00000379980:F283L;ENSP00000259633:F283L	ENSP00000259633:F283L	F	-	3	2	CD72	35601902	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.207000	0.09384	0.059000	0.16252	0.655000	0.94253	TTC		0.448	CD72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052336.1	NM_001782	
FAM221B	392307	broad.mit.edu	37	9	35825359	35825359	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr9:35825359G>A	ENST00000423537.2	-	3	879	c.610C>T	c.(610-612)Cgc>Tgc	p.R204C	TMEM8B_ENST00000377996.1_Intron	NM_001012446.3	NP_001012448.2	A6H8Z2	F221B_HUMAN	family with sequence similarity 221, member B	204								p.R204C(1)		endometrium(2)|kidney(1)|lung(4)	7						AACACTGGGCGGGCTGTGTTA	0.527																																					p.R204C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C610T	9						.						84.0	83.0	83.0					9																	35825359		1972	4157	6129	35815359	SO:0001583	missense	392307	exon3			BX648702	CCDS43799.1, CCDS43799.2	9p13.3	2012-04-02	2012-04-02	2012-04-02	ENSG00000204930	ENSG00000204930			30762	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 128"""	C9orf128			Standard	NM_001012446		Approved		uc010mlc.2	A6H8Z2	OTTHUMG00000019880	ENST00000423537.2:c.610C>T	9.37:g.35825359G>A	ENSP00000415299:p.Arg204Cys		35815359	NM_001012446	Q5TCW2	Missense_Mutation	SNP	ENST00000423537.2	37	CCDS43799.2	.	.	.	.	.	.	.	.	.	.	g	12.25	1.880670	0.33255	.	.	ENSG00000204930	ENST00000423537;ENST00000377984	T;T	0.23147	2.25;1.92	5.41	1.41	0.22369	.	1.583790	0.03785	N	0.261999	T	0.35068	0.0919	L	0.39898	1.24	0.09310	N	1	D	0.71674	0.998	P	0.56916	0.809	T	0.10870	-1.0611	10	0.87932	D	0	-0.6927	4.7925	0.13256	0.1625:0.0:0.5408:0.2967	.	204	A6H8Z2	CI128_HUMAN	C	204	ENSP00000415299:R204C;ENSP00000367222:R204C	ENSP00000367222:R204C	R	-	1	0	C9orf128	35815359	0.001000	0.12720	0.001000	0.08648	0.209000	0.24338	0.430000	0.21428	-0.005000	0.14395	-0.200000	0.12747	CGC		0.527	FAM221B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355861.1	NM_001012446	
FBXO10	26267	broad.mit.edu	37	9	37521773	37521773	+	Missense_Mutation	SNP	C	C	T	rs200044588		TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr9:37521773C>T	ENST00000432825.2	-	8	2041	c.1993G>A	c.(1993-1995)Gtc>Atc	p.V665I	FBXO10_ENST00000543968.1_5'UTR|RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Missense_Mutation_p.V190I	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	665					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.V665I(1)		breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		TTGTAGCTGACGTGGTTGCTG	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		19173	0.0		0.0	False		,,,				2504	0.001				p.V665I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1993A	9						.	C	ILE/VAL	0,4322		0,0,2161	64.0	68.0	66.0		1993	1.4	1.0	9		66	2,8520		0,2,4259	yes	missense	FBXO10	NM_012166.2	29	0,2,6420	TT,TC,CC		0.0235,0.0,0.0156	benign	665/957	37521773	2,12842	2161	4261	6422	37511773	SO:0001583	missense	26267	exon8			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.1993G>A	9.37:g.37521773C>T	ENSP00000403802:p.Val665Ile		37511773	NM_012166	Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Missense_Mutation	SNP	ENST00000432825.2	37	CCDS47966.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.555377	0.45487	0.0	2.35E-4	ENSG00000147912	ENST00000432825;ENST00000541829	T;T	0.76316	-1.01;1.15	4.74	1.36	0.22044	Pectin lyase fold/virulence factor (1);Carbohydrate-binding/sugar hydrolysis domain (1);	0.348054	0.27720	N	0.018127	T	0.31765	0.0807	N	0.00202	-1.86	0.38110	D	0.937524	B;B;B	0.20052	0.001;0.041;0.0	B;B;B	0.13407	0.003;0.009;0.002	T	0.46442	-0.9191	10	0.02654	T	1	-16.1311	5.6077	0.17389	0.0:0.4082:0.0:0.5918	.	544;190;665	Q59F51;Q08AL4;Q9UK96	.;.;FBX10_HUMAN	I	665;190	ENSP00000403802:V665I;ENSP00000441307:V190I	ENSP00000403802:V665I	V	-	1	0	FBXO10	37511773	0.997000	0.39634	0.975000	0.42487	0.993000	0.82548	2.264000	0.43302	0.414000	0.25790	0.561000	0.74099	GTC		0.562	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3		
TRPM6	140803	broad.mit.edu	37	9	77390913	77390913	+	Missense_Mutation	SNP	C	C	T	rs114160749	byFrequency	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr9:77390913C>T	ENST00000360774.1	-	24	3526	c.3289G>A	c.(3289-3291)Gag>Aag	p.E1097K	TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.E1097K|TRPM6_ENST00000449912.2_Missense_Mutation_p.E1092K|TRPM6_ENST00000451710.3_Missense_Mutation_p.E1097K|TRPM6_ENST00000361255.3_Missense_Mutation_p.E1092K|TRPM6_ENST00000376871.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1097					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.E1097K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CAGGGCTTCTCGTGGTAGGTC	0.522													C|||	5	0.000998403	0.003	0.0014	5008	,	,		17977	0.0		0.0	False		,,,				2504	0.0				p.E1092K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3274A	9						.	C	LYS/GLU,LYS/GLU,LYS/GLU	9,4397	15.5+/-35.6	0,9,2194	111.0	120.0	117.0		3274,3274,3289	1.8	0.2	9	dbSNP_132	117	0,8600		0,0,4300	yes	missense,missense,missense	TRPM6	NM_001177310.1,NM_001177311.1,NM_017662.4	56,56,56	0,9,6494	TT,TC,CC		0.0,0.2043,0.0692	benign,benign,benign	1092/2018,1092/2018,1097/2023	77390913	9,12997	2203	4300	6503	76580733	SO:0001583	missense	140803	exon24			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.3289G>A	9.37:g.77390913C>T	ENSP00000354006:p.Glu1097Lys		76580733	NM_001177310	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	CCDS6647.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	14.27	2.486008	0.44147	0.002043	0.0	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.57273	0.49;0.49;0.5;0.5;0.41	5.76	1.8	0.24995	.	0.362157	0.34555	N	0.003872	T	0.44519	0.1297	L	0.53249	1.67	0.31549	N	0.65904	B;B;B	0.18310	0.016;0.012;0.027	B;B;B	0.18263	0.005;0.021;0.013	T	0.47302	-0.9128	10	0.62326	D	0.03	.	8.3783	0.32455	0.0:0.6201:0.2475:0.1324	.	1097;1092;1092	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	K	1097;1097;1092;1092;1097;760;760	ENSP00000354006:E1097K;ENSP00000407341:E1097K;ENSP00000396672:E1092K;ENSP00000354962:E1092K;ENSP00000366060:E1097K	ENSP00000309693:E760K	E	-	1	0	TRPM6	76580733	0.320000	0.24616	0.196000	0.23383	0.589000	0.36550	0.956000	0.29202	0.071000	0.16664	0.591000	0.81541	GAG		0.522	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662	
PRUNE2	158471	broad.mit.edu	37	9	79322751	79322751	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr9:79322751C>T	ENST00000376718.3	-	8	4562	c.4439G>A	c.(4438-4440)gGg>gAg	p.G1480E	PRUNE2_ENST00000428286.1_Missense_Mutation_p.G1121E	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1480					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.G1480E(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GTGAGGTGGCCCTCCACCCAC	0.433																																					p.G1480E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4439A	9						.						43.0	44.0	44.0					9																	79322751		1568	3582	5150	78512571	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.4439G>A	9.37:g.79322751C>T	ENSP00000365908:p.Gly1480Glu		78512571	NM_015225	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	C	0.245	-1.010942	0.02095	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.38401	1.14;1.14	5.48	-3.63	0.04529	.	1.084200	0.07135	N	0.846205	T	0.08935	0.0221	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24440	-1.0160	10	0.07482	T	0.82	5.2552	0.6254	0.00785	0.3783:0.2695:0.1686:0.1836	.	1480	Q8WUY3	PRUN2_HUMAN	E	1480;1121;1479	ENSP00000365908:G1480E;ENSP00000397425:G1121E	ENSP00000365908:G1480E	G	-	2	0	PRUNE2	78512571	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.228000	0.02948	-0.538000	0.06281	-0.355000	0.07637	GGG		0.433	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818	
SPATA31D1	389763	broad.mit.edu	37	9	84608469	84608469	+	Silent	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr9:84608469T>C	ENST00000344803.2	+	4	3131	c.3084T>C	c.(3082-3084)ggT>ggC	p.G1028G		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1028					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.G1028G(1)									TTAGAAGAGGTACTACAGATT	0.448																																					p.G1028G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3084C	9						.						155.0	159.0	158.0					9																	84608469		1851	4096	5947	83798289	SO:0001819	synonymous_variant	389763	exon4				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.3084T>C	9.37:g.84608469T>C			83798289	NM_001001670		Silent	SNP	ENST00000344803.2	37	CCDS47986.1																																																																																				0.448	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670	
SEMA4D	10507	broad.mit.edu	37	9	92011678	92011678	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr9:92011678C>T	ENST00000450295.1	-	6	1164	c.388G>A	c.(388-390)Gca>Aca	p.A130T	SEMA4D_ENST00000343780.4_Missense_Mutation_p.A130T|SEMA4D_ENST00000422704.2_Missense_Mutation_p.A130T|SEMA4D_ENST00000420987.1_Missense_Mutation_p.A130T|SEMA4D_ENST00000438547.2_Missense_Mutation_p.A130T|SEMA4D_ENST00000455551.2_Missense_Mutation_p.A130T|SEMA4D_ENST00000339861.4_Missense_Mutation_p.A130T|SEMA4D_ENST00000356444.2_Missense_Mutation_p.A130T			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	130	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.A130T(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						GGCTGGAATGCGTTGGTCCCA	0.582																																					p.A130T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G388A	9						.						116.0	83.0	94.0					9																	92011678		2203	4300	6503	91201498	SO:0001583	missense	10507	exon8			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.388G>A	9.37:g.92011678C>T	ENSP00000416523:p.Ala130Thr		91201498	NM_001142287	B2RPM6|Q7Z5S4|Q8N8B0	Missense_Mutation	SNP	ENST00000450295.1	37	CCDS6685.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.009103	0.93346	.	.	ENSG00000187764	ENST00000339861;ENST00000420987;ENST00000455551;ENST00000343780;ENST00000450295;ENST00000438547;ENST00000356444;ENST00000422704;ENST00000420681	T;T;T;T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22	4.71	4.71	0.59529	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.108661	0.64402	D	0.000009	T	0.73442	0.3587	H	0.97340	3.985	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.74674	0.933;0.984	D	0.84321	0.0516	10	0.87932	D	0	.	16.8255	0.85930	0.0:1.0:0.0:0.0	.	130;130	Q92854-2;Q92854	.;SEM4D_HUMAN	T	130	ENSP00000344923:A130T;ENSP00000391733:A130T;ENSP00000411981:A130T;ENSP00000343418:A130T;ENSP00000416523:A130T;ENSP00000405102:A130T;ENSP00000348822:A130T;ENSP00000388768:A130T;ENSP00000390754:A130T	ENSP00000344923:A130T	A	-	1	0	SEMA4D	91201498	1.000000	0.71417	0.364000	0.25888	0.814000	0.46013	7.226000	0.78060	2.430000	0.82344	0.555000	0.69702	GCA		0.582	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342411.1	NM_006378	
FAM120AOS	158293	broad.mit.edu	37	9	96212805	96212805	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr9:96212805C>T	ENST00000375412.5	-	2	1522	c.640G>A	c.(640-642)Gcg>Acg	p.A214T	FAM120A_ENST00000375389.3_5'Flank|FAM120A_ENST00000277165.6_5'Flank|FAM120A_ENST00000333936.5_5'Flank|FAM120A_ENST00000340893.4_5'Flank|FAM120AOS_ENST00000479094.1_5'UTR|FAM120AOS_ENST00000423591.1_Missense_Mutation_p.A32T	NM_198841.2	NP_942138.2	Q5T036	F120S_HUMAN	family with sequence similarity 120A opposite strand	214								p.A214T(1)		kidney(1)|large_intestine(1)|lung(3)|skin(1)	6						AAACCGTGCGCGTGCAGGCTC	0.517																																					p.A214T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G640A	9						.						83.0	89.0	87.0					9																	96212805		2203	4300	6503	95252626	SO:0001583	missense	158293	exon2			AK056096	CCDS6705.1	9q22.32	2008-02-05	2006-07-04	2006-07-04	ENSG00000188938	ENSG00000188938			23389	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 10 opposite strand"""	C9orf10OS		14585507	Standard	NM_198841		Approved		uc004atu.4	Q5T036	OTTHUMG00000020251	ENST00000375412.5:c.640G>A	9.37:g.96212805C>T	ENSP00000364561:p.Ala214Thr		95252626	NM_198841	A6NN20	Missense_Mutation	SNP	ENST00000375412.5	37	CCDS6705.1	.	.	.	.	.	.	.	.	.	.	C	5.699	0.313592	0.10789	.	.	ENSG00000188938	ENST00000423591;ENST00000375412;ENST00000375409;ENST00000428378	T;T;T	0.58060	0.41;0.52;0.36	2.69	-2.82	0.05787	.	.	.	.	.	T	0.24198	0.0586	N	0.08118	0	0.09310	N	1	B	0.16396	0.017	B	0.06405	0.002	T	0.14282	-1.0478	9	0.87932	D	0	.	0.1271	0.00070	0.2489:0.181:0.2366:0.3335	.	214	Q5T036	F120S_HUMAN	T	32;214;31;31	ENSP00000414298:A32T;ENSP00000364561:A214T;ENSP00000416978:A31T	ENSP00000364558:A31T	A	-	1	0	FAM120AOS	95252626	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.805000	0.04530	-0.795000	0.04462	-0.311000	0.09066	GCG		0.517	FAM120AOS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053154.1		
NCBP1	4686	broad.mit.edu	37	9	100407914	100407914	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr9:100407914T>C	ENST00000375147.3	+	6	767	c.511T>C	c.(511-513)Tat>Cat	p.Y171H		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	171	MIF4G.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)	p.Y171H(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				TTGGTATGTGTATGCATTTCT	0.328																																					p.Y171H	Ovarian(36;879 898 2893 44212 50307)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T511C	9						.						133.0	120.0	125.0					9																	100407914		2203	4300	6503	99447735	SO:0001583	missense	4686	exon6			BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"""nuclear cap binding protein subunit 1, 80kD"""	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.511T>C	9.37:g.100407914T>C	ENSP00000364289:p.Tyr171His		99447735	NM_002486	B2R718|Q59G76|Q5T1V0|Q5T7X2	Missense_Mutation	SNP	ENST00000375147.3	37	CCDS6728.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.868871	0.91587	.	.	ENSG00000136937	ENST00000375147	T	0.21361	2.01	5.5	5.5	0.81552	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.129958	0.53938	D	0.000044	T	0.40222	0.1108	M	0.71581	2.175	0.80722	D	1	P	0.39696	0.683	P	0.52109	0.69	T	0.09618	-1.0666	10	0.39692	T	0.17	-18.2035	15.5866	0.76489	0.0:0.0:0.0:1.0	.	171	Q09161	NCBP1_HUMAN	H	171	ENSP00000364289:Y171H	ENSP00000364289:Y171H	Y	+	1	0	NCBP1	99447735	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.966000	0.70395	2.240000	0.73641	0.528000	0.53228	TAT		0.328	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053337.1	NM_002486	
KLF4	9314	broad.mit.edu	37	9	110249507	110249507	+	Intron	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr9:110249507C>T	ENST00000374672.4	-	4	1573					NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)						cellular response to cycloheximide (GO:0071409)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to peptide (GO:1901653)|epidermal cell differentiation (GO:0009913)|epidermis morphogenesis (GO:0048730)|fat cell differentiation (GO:0045444)|mesodermal cell fate determination (GO:0007500)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of muscle hyperplasia (GO:0014740)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic camera-type eye development (GO:0031077)|post-embryonic hemopoiesis (GO:0035166)|regulation of cell differentiation (GO:0045595)|response to retinoic acid (GO:0032526)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001010)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						AGCATCATCCCGTGTGTCCCG	0.637																																					.												.	.	0			.	9						.						71.0	67.0	68.0					9																	110249507		2203	4300	6503	109289328	SO:0001627	intron_variant	9314	.			AF022184	CCDS6770.2	9q31	2013-01-08			ENSG00000136826	ENSG00000136826		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6348	protein-coding gene	gene with protein product		602253				9422764, 16372018	Standard	NM_004235		Approved	EZF, GKLF	uc004bdg.3	O43474	OTTHUMG00000020449	ENST00000374672.4:c.1100-34G>A	9.37:g.110249507C>T			109289328	.	B2R8S4|B3KT79|L0R3I6|L0R4N5|P78338|Q5T3J8|Q5T3J9|Q8N717|Q9UNP3	Missense_Mutation	SNP	ENST00000374672.4	37	CCDS6770.2																																																																																				0.637	KLF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053556.2	NM_004235	
COL5A1	1289	broad.mit.edu	37	9	137642390	137642390	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr9:137642390delC	ENST00000371817.3	+	12	1911	c.1497delC	c.(1495-1497)ggcfs	p.G499fs		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	499	Interrupted collagenous region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.P501fs*57(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)		GTCTTCAGGGCCCCCCTGGAC	0.667																																					p.G499fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1497delC	9						.						46.0	51.0	50.0					9																	137642390		2203	4300	6503	136782211	SO:0001589	frameshift_variant	1289	exon12			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.1497delC	9.37:g.137642390delC	ENSP00000360882:p.Gly499fs		136782211	NM_000093	Q15094|Q5SUX4	Frame_Shift_Del	DEL	ENST00000371817.3	37	CCDS6982.1																																																																																				0.667	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093	
CACNA1B	774	broad.mit.edu	37	9	140919555	140919555	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chr9:140919555G>T	ENST00000371372.1	+	20	3362	c.3217G>T	c.(3217-3219)Gac>Tac	p.D1073Y	CACNA1B_ENST00000277549.5_Missense_Mutation_p.D265Y|CACNA1B_ENST00000277551.2_Missense_Mutation_p.D1073Y|CACNA1B_ENST00000371357.1_Missense_Mutation_p.D1074Y|CACNA1B_ENST00000371363.1_Missense_Mutation_p.D1073Y|CACNA1B_ENST00000371355.4_Missense_Mutation_p.D1074Y|CACNA1B_ENST00000545473.1_Missense_Mutation_p.D57Y|CACNA1B_ENST00000371367.5_Missense_Mutation_p.D57Y	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1073					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)	p.D1073Y(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TCAGCCCCCAGACCCGAACAC	0.597																																					p.D1073Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3217T	9						.						69.0	79.0	76.0					9																	140919555		2153	4242	6395	140039376	SO:0001583	missense	774	exon20			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.3217G>T	9.37:g.140919555G>T	ENSP00000360423:p.Asp1073Tyr		140039376	NM_000718	B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.888168	0.33348	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355;ENST00000371367;ENST00000545473	T;T;T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.12	4.22	0.49857	.	5.759620	0.00166	N	0.000002	T	0.48502	0.1503	L	0.38175	1.15	0.25451	N	0.988004	P;P;P	0.48016	0.847;0.904;0.847	B;B;B	0.42738	0.396;0.396;0.396	T	0.53337	-0.8453	10	0.59425	D	0.04	.	13.8573	0.63537	0.075:0.0:0.925:0.0	.	1073;1074;1073	B1AQK4;B1AQK7;B1AQK6	.;.;.	Y	1073;1073;265;1073;1074;1074;57;57	ENSP00000360423:D1073Y;ENSP00000277551:D1073Y;ENSP00000277549:D265Y;ENSP00000360414:D1073Y;ENSP00000360408:D1074Y;ENSP00000360406:D1074Y;ENSP00000360418:D57Y;ENSP00000441232:D57Y	ENSP00000277549:D265Y	D	+	1	0	CACNA1B	140039376	1.000000	0.71417	0.046000	0.18839	0.053000	0.15095	6.073000	0.71245	2.385000	0.81259	0.561000	0.74099	GAC		0.597	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718	
IRAK1	3654	broad.mit.edu	37	X	153284686	153284687	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chrX:153284686_153284687insG	ENST00000369980.3	-	3	564_565	c.397_398insC	c.(397-399)cggfs	p.R133fs	IRAK1_ENST00000393682.1_Frame_Shift_Ins_p.R159fs|IRAK1_ENST00000393687.2_Frame_Shift_Ins_p.R133fs|IRAK1_ENST00000477274.1_5'Flank|IRAK1_ENST00000369974.2_Frame_Shift_Ins_p.R133fs|MIR718_ENST00000390190.2_RNA|IRAK1_ENST00000429936.2_Frame_Shift_Ins_p.R159fs	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	133	ProST region.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|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 apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|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 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 transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|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)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)	p.R133fs*25(2)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGCAACTTCCGGGGGCTCCAG	0.698																																					p.R133fs												.	.	2	Insertion - Frameshift(2)	large_intestine(2)	c.398_399insC	X						.																																			152937881	SO:0001589	frameshift_variant	3654	exon3			L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.398dupC	X.37:g.153284691_153284691dupG	ENSP00000358997:p.Arg133fs		152937880	NM_001025243	D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Frame_Shift_Ins	INS	ENST00000369980.3	37	CCDS14740.1																																																																																				0.698	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061143.3		
NXF5	55998	broad.mit.edu	37	X	101092605	101092605	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chrX:101092605T>G	ENST00000361708.2	-	15	1300	c.941A>C	c.(940-942)aAg>aCg	p.K314T	NXF5_ENST00000473265.2_Missense_Mutation_p.K314T|NXF5_ENST00000537026.1_Missense_Mutation_p.K314T			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	314	NTF2; truncated.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.K314T(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						TTTTGTGTGCTTTAGCAGCTT	0.532																																					p.K314T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A941C	X						.						156.0	128.0	137.0					X																	101092605		2203	4300	6503	100979261	SO:0001583	missense	55998	exon15			AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.941A>C	X.37:g.101092605T>G	ENSP00000355286:p.Lys314Thr		100979261	NM_032946	A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Missense_Mutation	SNP	ENST00000361708.2	37		.	.	.	.	.	.	.	.	.	.	.	13.22	2.170742	0.38315	.	.	ENSG00000126952	ENST00000537026;ENST00000473265;ENST00000361708	T;T;T	0.57107	0.42;0.42;0.44	2.33	1.14	0.20703	.	0.000000	0.85682	U	0.000000	T	0.62085	0.2399	M	0.79123	2.44	0.38474	D	0.947541	P	0.51653	0.947	P	0.57720	0.826	T	0.61850	-0.6978	10	0.54805	T	0.06	.	6.0131	0.19588	0.0:0.1477:0.0:0.8523	.	314	A2RRM0	.	T	314	ENSP00000442401:K314T;ENSP00000426978:K314T;ENSP00000355286:K314T	ENSP00000263032:K314T	K	-	2	0	NXF5	100979261	0.996000	0.38824	0.017000	0.16124	0.007000	0.05969	1.559000	0.36320	0.169000	0.19679	-1.686000	0.00732	AAG		0.532	NXF5-201	KNOWN	basic	protein_coding	protein_coding			
IRS4	8471	broad.mit.edu	37	X	107977907	107977907	+	Silent	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chrX:107977907G>A	ENST00000372129.2	-	1	1744	c.1668C>T	c.(1666-1668)caC>caT	p.H556H	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	556					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.H556H(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CACCTGAACCGTGCCCACCTG	0.652																																					p.H556H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1668T	X						.						117.0	118.0	118.0					X																	107977907		2203	4300	6503	107864563	SO:0001819	synonymous_variant	8471	exon1			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1668C>T	X.37:g.107977907G>A			107864563	NM_003604		Silent	SNP	ENST00000372129.2	37	CCDS14544.1																																																																																				0.652	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604	
TMEM164	84187	broad.mit.edu	37	X	109416610	109416610	+	Silent	SNP	A	A	G			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chrX:109416610A>G	ENST00000372073.1	+	7	1161	c.825A>G	c.(823-825)tcA>tcG	p.S275S	TMEM164_ENST00000288381.4_Silent_p.S236S|TMEM164_ENST00000464177.1_3'UTR|TMEM164_ENST00000372068.2_Silent_p.S275S|TMEM164_ENST00000372072.3_Silent_p.S126S			Q5U3C3	TM164_HUMAN	transmembrane protein 164	275						integral component of membrane (GO:0016021)		p.S236S(1)|p.S275S(1)		cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						TCCTGTTCTCATACATGGCTG	0.507																																					p.S275S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A825G	X						.						84.0	76.0	78.0					X																	109416610		2203	4300	6503	109303266	SO:0001819	synonymous_variant	84187	exon7			AK094127	CCDS14550.2, CCDS55475.1	Xq22.3	2008-02-05			ENSG00000157600	ENSG00000157600			26217	protein-coding gene	gene with protein product						12477932	Standard	NM_032227		Approved	FLJ22679, RP13-360B22.2	uc004eom.3	Q5U3C3	OTTHUMG00000022192	ENST00000372073.1:c.825A>G	X.37:g.109416610A>G			109303266	NM_032227	B3KSQ8|F5H2P2	Silent	SNP	ENST00000372073.1	37	CCDS14550.2																																																																																				0.507	TMEM164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057898.1	NM_032227	
TENM1	10178	broad.mit.edu	37	X	123630896	123630896	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chrX:123630896G>A	ENST00000371130.3	-	20	3728	c.3665C>T	c.(3664-3666)tCg>tTg	p.S1222L	TENM1_ENST00000422452.2_Missense_Mutation_p.S1222L|TENM1_ENST00000461429.1_5'UTR	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1222					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.S1224L(2)									GGAGTTTCCCGAGGGAAATAT	0.393													G|||	1	0.000264901	0.0	0.0	3775	,	,		14676	0.001		0.0	False		,,,				2504	0.0				p.S1222L												.	.	2	Substitution - Missense(2)	large_intestine(1)|NS(1)	c.C3665T	X						.						61.0	63.0	63.0					X																	123630896		2203	4300	6503	123458577	SO:0001583	missense	10178	exon20			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.3665C>T	X.37:g.123630896G>A	ENSP00000360171:p.Ser1222Leu		123458577	NM_014253	B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697911	0.48307	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.90732	-2.72;-2.05	5.67	3.91	0.45181	Six-bladed beta-propeller, TolB-like (1);	0.448501	0.24018	N	0.042319	D	0.84543	0.5495	L	0.31371	0.925	0.39885	D	0.973689	B;B;B	0.13145	0.002;0.002;0.007	B;B;B	0.06405	0.001;0.001;0.002	T	0.79001	-0.1981	10	0.72032	D	0.01	.	11.4426	0.50105	0.1494:0.0:0.8506:0.0	.	1221;1222;1222	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	L	1222	ENSP00000360171:S1222L;ENSP00000403954:S1222L	ENSP00000360171:S1222L	S	-	2	0	ODZ1	123458577	1.000000	0.71417	0.899000	0.35326	0.985000	0.73830	3.230000	0.51286	0.566000	0.29273	0.600000	0.82982	TCG		0.393	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253	
PHF6	84295	broad.mit.edu	37	X	133511766	133511766	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chrX:133511766C>T	ENST00000332070.3	+	2	321	c.119C>T	c.(118-120)gCa>gTa	p.A40V	PHF6_ENST00000370799.1_Missense_Mutation_p.A40V|PHF6_ENST00000416404.2_Missense_Mutation_p.A40V|PHF6_ENST00000370800.4_Missense_Mutation_p.A40V|PHF6_ENST00000394292.1_Missense_Mutation_p.A40V|PHF6_ENST00000370803.3_Missense_Mutation_p.A40V	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	40	Extended PHD1 domain (ePHD1).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|scaffold protein binding (GO:0097110)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.A40V(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					CAGAAGGTGGCAGCGCACCAT	0.408			"""F, N, Splice, Mis"""		ETP ALL																																p.A40V	Colon(100;666 1493 6344 21231 35807)		Rec	yes		X	Xq26.3	84295	PHD finger protein 6		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C119T	X						.						89.0	81.0	84.0					X																	133511766		2203	4300	6503	133339432	SO:0001583	missense	84295	exon2			AB058726	CCDS14639.1, CCDS14640.1	Xq26	2014-09-17			ENSG00000156531	ENSG00000156531		"""Zinc fingers, PHD-type"""	18145	protein-coding gene	gene with protein product	"""centromere protein 31"""	300414	"""Borjeson-Forssman-Lehmann syndrome"""	BFLS, BORJ		12415272, 15466013	Standard	NM_032335		Approved	KIAA1823, MGC14797, CENP-31	uc004exk.3	Q8IWS0	OTTHUMG00000022453	ENST00000332070.3:c.119C>T	X.37:g.133511766C>T	ENSP00000329097:p.Ala40Val		133339432	NM_032335	A8K230|B4E0G4|D3DTG3|E9PC97|Q5JRC7|Q5JRC8|Q96JK3|Q9BRU0	Missense_Mutation	SNP	ENST00000332070.3	37	CCDS14639.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.782791	0.90282	.	.	ENSG00000156531	ENST00000370803;ENST00000332070;ENST00000394292;ENST00000370799;ENST00000416404;ENST00000370800	D;D;D;D;T;D	0.90385	-2.62;-2.62;-2.06;-2.66;-0.52;-2.13	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.91583	0.7341	L	0.27053	0.805	0.80722	D	1	D;D;D;D;D	0.76494	0.997;0.964;0.997;0.997;0.999	D;P;D;D;D	0.85130	0.994;0.766;0.95;0.95;0.997	D	0.88520	0.3095	10	0.15499	T	0.54	-20.6906	18.0742	0.89422	0.0:1.0:0.0:0.0	.	40;40;40;40;40	B4E0G4;A8K230;Q8IWS0;E9PC97;Q8IWS0-2	.;.;PHF6_HUMAN;.;.	V	40	ENSP00000359839:A40V;ENSP00000329097:A40V;ENSP00000377831:A40V;ENSP00000359835:A40V;ENSP00000394480:A40V;ENSP00000359836:A40V	ENSP00000329097:A40V	A	+	2	0	PHF6	133339432	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.445000	0.80570	2.577000	0.86979	0.544000	0.68410	GCA		0.408	PHF6-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058367.1	NM_032458	
HTATSF1	27336	broad.mit.edu	37	X	135593314	135593314	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chrX:135593314C>T	ENST00000218364.4	+	9	1584	c.1410C>T	c.(1408-1410)ggC>ggT	p.G470G	HTATSF1_ENST00000535601.1_Silent_p.G470G	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	470	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G470G(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					CTGAAGAGGGCTGCCCCAAAA	0.463																																					p.G470G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1410T	X						.						46.0	51.0	49.0					X																	135593314		2190	4286	6476	135420980	SO:0001819	synonymous_variant	27336	exon9			U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.1410C>T	X.37:g.135593314C>T			135420980	NM_014500	D3DWG9|Q59G06|Q99730	Silent	SNP	ENST00000218364.4	37	CCDS14657.1																																																																																				0.463	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500	
MXRA5	25878	broad.mit.edu	37	X	3242301	3242301	+	Silent	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chrX:3242301G>A	ENST00000217939.6	-	5	1579	c.1425C>T	c.(1423-1425)agC>agT	p.S475S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	475						extracellular vesicular exosome (GO:0070062)		p.S475S(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCATTACCCAGCTTCTGCCCC	0.512																																					p.S475S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1425T	X						.						115.0	106.0	109.0					X																	3242301		2203	4300	6503	3252301	SO:0001819	synonymous_variant	25878	exon5			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.1425C>T	X.37:g.3242301G>A			3252301	NM_015419	Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	CCDS14124.1																																																																																				0.512	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
GPR143	4935	broad.mit.edu	37	X	9707677	9707677	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chrX:9707677G>T	ENST00000467482.1	-	8	1114	c.968C>A	c.(967-969)cCc>cAc	p.P323H	GPR143_ENST00000487206.1_5'UTR|GPR143_ENST00000380929.2_Missense_Mutation_p.P343H			P51810	GP143_HUMAN	G protein-coupled receptor 143	323					calcium-mediated signaling using intracellular calcium source (GO:0035584)|eye pigment biosynthetic process (GO:0006726)|G-protein coupled receptor signaling pathway (GO:0007186)|melanosome localization (GO:0032400)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuropeptide signaling pathway (GO:0007218)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of calcium-mediated signaling (GO:0050848)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|G-protein coupled receptor activity (GO:0004930)|L-DOPA binding (GO:0072544)|L-DOPA receptor activity (GO:0035643)|tyrosine binding (GO:0072545)	p.P343H(1)		endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				CTCCTTCCTGGGAGACTGAAA	0.572																																					p.P323H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C968A	X						.						41.0	36.0	38.0					X																	9707677		2203	4298	6501	9667677	SO:0001583	missense	4935	exon8			Z48804	CCDS14134.1, CCDS14134.2	Xp22.3	2013-09-27	2003-12-01		ENSG00000101850	ENSG00000101850		"""GPCR / Unclassified : 7TM orphan receptors"""	20145	protein-coding gene	gene with protein product	"""ocular albinism 1"""	300808	"""ocular albinism 1 (Nettleship-Falls)"""	OA1		7647783, 10471510	Standard	NM_000273		Approved		uc004cst.2	P51810	OTTHUMG00000021118	ENST00000467482.1:c.968C>A	X.37:g.9707677G>T	ENSP00000417161:p.Pro323His		9667677	NM_000273	Q6NTI7	Missense_Mutation	SNP	ENST00000467482.1	37	CCDS14134.2	.	.	.	.	.	.	.	.	.	.	g	10.57	1.388503	0.25118	.	.	ENSG00000101850	ENST00000467482;ENST00000380929	D;D	0.99483	-5.99;-5.99	5.01	4.01	0.46588	.	0.444418	0.26571	N	0.023636	D	0.97579	0.9207	L	0.43923	1.385	0.09310	N	1	B	0.19445	0.036	B	0.21708	0.036	D	0.93230	0.6616	10	0.37606	T	0.19	-7.9411	6.3165	0.21194	0.0:0.2897:0.4664:0.2438	.	323	P51810	GP143_HUMAN	H	323;343	ENSP00000417161:P323H;ENSP00000370316:P343H	ENSP00000370316:P343H	P	-	2	0	GPR143	9667677	0.110000	0.22057	0.077000	0.20336	0.904000	0.53231	0.639000	0.24690	2.226000	0.72624	0.597000	0.82753	CCC		0.572	GPR143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055714.2	NM_000273	
MAP7D2	256714	broad.mit.edu	37	X	20060663	20060663	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chrX:20060663delA	ENST00000379651.3	-	7	859	c.841delT	c.(841-843)tctfs	p.S281fs	MAP7D2_ENST00000379643.5_Frame_Shift_Del_p.S322fs|MAP7D2_ENST00000543767.1_Frame_Shift_Del_p.S166fs|MAP7D2_ENST00000443379.3_Frame_Shift_Del_p.S236fs|MAP7D2_ENST00000452324.3_Frame_Shift_Del_p.S229fs	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	281					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)		p.S281fs*12(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						ATGCCTCCAGAAAACTCACAT	0.512																																					p.S322fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.964delT	X						.						174.0	154.0	161.0					X																	20060663		2203	4300	6503	19970584	SO:0001589	frameshift_variant	256714	exon8			BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.841delT	X.37:g.20060663delA	ENSP00000368972:p.Ser281fs		19970584	NM_001168465	B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Frame_Shift_Del	DEL	ENST00000379651.3	37	CCDS14195.1																																																																																				0.512	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780	
MBTPS2	51360	broad.mit.edu	37	X	21861308	21861308	+	Silent	SNP	T	T	C			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chrX:21861308T>C	ENST00000379484.5	+	2	195	c.96T>C	c.(94-96)caT>caC	p.H32H	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Silent_p.H32H	NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	32					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.H32H(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						ATTTTAAACATTCTTATGAAG	0.353																																					p.H32H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T96C	X						.						117.0	114.0	115.0					X																	21861308		2203	4300	6503	21771229	SO:0001819	synonymous_variant	404281	exon2			AF019612	CCDS14201.1	Xp22.12-p22.11	2014-02-03	2005-08-17		ENSG00000012174	ENSG00000012174			15455	protein-coding gene	gene with protein product		300294	"""membrane-bound transcription factor protease, site 2"", ""keratosis follicularis spinulosa decalvans"""	KFSD		9847074, 9659902, 20672378	Standard	NM_015884		Approved	S2P	uc004dae.3	O43462	OTTHUMG00000021237	ENST00000379484.5:c.96T>C	X.37:g.21861308T>C			21771229	NM_015884	Q9UM70|Q9UMD3	Silent	SNP	ENST00000379484.5	37	CCDS14201.1																																																																																				0.353	MBTPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056026.1		
SRPX	8406	broad.mit.edu	37	X	38019295	38019295	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chrX:38019295C>T	ENST00000378533.3	-	7	1036	c.930G>A	c.(928-930)tgG>tgA	p.W310*	SRPX_ENST00000544439.1_Nonsense_Mutation_p.W290*|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000343800.6_Nonsense_Mutation_p.W297*|SRPX_ENST00000538295.1_Nonsense_Mutation_p.W310*|SRPX_ENST00000479015.1_5'UTR|SRPX_ENST00000432886.2_Nonsense_Mutation_p.W251*	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	310	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.W310*(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						CCGTGCCAGACCAAGCCAGGT	0.577																																					p.W310X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G930A	X						.						63.0	48.0	53.0					X																	38019295		2202	4300	6502	37904239	SO:0001587	stop_gained	8406	exon7			U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"""sushi-repeat-containing protein, X chromosome"", ""sushi-repeat-containing protein, X-linked"""			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.930G>A	X.37:g.38019295C>T	ENSP00000367794:p.Trp310*		37904239	NM_006307	A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	Nonsense_Mutation	SNP	ENST00000378533.3	37	CCDS14245.1	.	.	.	.	.	.	.	.	.	.	C	40	8.367342	0.98779	.	.	ENSG00000101955	ENST00000544439;ENST00000432886;ENST00000538295;ENST00000378533;ENST00000343800	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.4424	18.799	0.92008	0.0:1.0:0.0:0.0	.	.	.	.	X	290;251;310;310;297	.	ENSP00000339211:W297X	W	-	3	0	SRPX	37904239	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.385000	0.81259	0.600000	0.82982	TGG		0.577	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	NM_006307	
TSPAN7	7102	broad.mit.edu	37	X	38533570	38533570	+	Splice_Site	SNP	C	C	T	rs111440990	byFrequency	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chrX:38533570C>T	ENST00000378482.2	+	4	618	c.441C>T	c.(439-441)agC>agT	p.S147S	TSPAN7_ENST00000286824.6_Splice_Site_p.S164S|TM4SF2_ENST00000465127.1_Splice_Site_p.S177S|TSPAN7_ENST00000488893.1_3'UTR|TSPAN7_ENST00000422612.2_Splice_Site_p.S173S|TSPAN7_ENST00000545599.1_Splice_Site_p.S121S	NM_004615.3	NP_004606.2	P41732	TSN7_HUMAN	tetraspanin 7	147					viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)		p.S142S(1)|p.S147S(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						TGCAGCGCAGCGTAAGTTCCA	0.507													C|||	130	0.0344371	0.0908	0.0144	3775	,	,		15171	0.0		0.0	False		,,,				2504	0.0				p.S147S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C441T	X						.	C		402,3429		22,303,55,1306,514	93.0	68.0	77.0		441	-2.9	0.9	X	dbSNP_132	77	10,6713		0,8,2,2419,1867	yes	coding-synonymous-near-splice	TSPAN7	NM_004615.3		22,311,57,3725,2381	TT,TC,T,CC,C		0.1487,10.4933,3.9037		147/250	38533570	412,10142	2200	4296	6496	38418514	SO:0001630	splice_region_variant	7102	exon4			D29808	CCDS14248.1	Xp11.4	2013-02-14	2005-03-21	2005-03-21	ENSG00000156298	ENSG00000156298		"""CD molecules"", ""Tetraspanins"""	11854	protein-coding gene	gene with protein product		300096	"""transmembrane 4 superfamily member 2"", ""mental retardation, X-linked 58"""	MXS1, TM4SF2, MRX58		12070254	Standard	NM_004615		Approved	DXS1692E, TALLA-1, A15, CD231	uc004deg.4	P41732	OTTHUMG00000024090	ENST00000378482.2:c.441+1C>T	X.37:g.38533570C>T			38418514	NM_004615	B2R5W7|D3DWB1|Q8WVG5|Q9UEY9	Silent	SNP	ENST00000378482.2	37	CCDS14248.1																																																																																				0.507	TSPAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356412.1		Silent
CXorf36	79742	broad.mit.edu	37	X	45060034	45060034	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chrX:45060034C>T	ENST00000398000.2	-	1	112	c.38G>A	c.(37-39)cGc>cAc	p.R13H	RP11-342D14.1_ENST00000438181.1_RNA|RP11-342D14.1_ENST00000450527.1_RNA|CXorf36_ENST00000377934.4_Missense_Mutation_p.R13H	NM_176819.3	NP_789789.2	Q9H7Y0	DIA1R_HUMAN	chromosome X open reading frame 36	13						extracellular region (GO:0005576)		p.R13H(2)		endometrium(1)|large_intestine(2)|lung(4)	7						CCAGCCAGGGCGGAGGGCGGC	0.652																																					p.R13H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G38A	X						.						15.0	15.0	15.0					X																	45060034		2203	4290	6493	44944978	SO:0001583	missense	79742	exon1			AF289581	CCDS14266.1, CCDS48096.1	Xp11.3-p11.23	2012-08-03			ENSG00000147113	ENSG00000147113			25866	protein-coding gene	gene with protein product						11944989, 21283809	Standard	NM_176819		Approved	FLJ14103, DIA1R	uc004dgg.2	Q9H7Y0	OTTHUMG00000021403	ENST00000398000.2:c.38G>A	X.37:g.45060034C>T	ENSP00000381086:p.Arg13His		44944978	NM_176819	A8MUU5|B2RPN7|Q6UWJ5	Missense_Mutation	SNP	ENST00000398000.2	37	CCDS48096.1	.	.	.	.	.	.	.	.	.	.	C	0.835	-0.744051	0.03088	.	.	ENSG00000147113	ENST00000398000;ENST00000377934	T;T	0.30448	1.55;1.53	5.33	-5.63	0.02474	.	1.717000	0.02711	N	0.112847	T	0.16599	0.0399	N	0.16478	0.41	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.0	T	0.12528	-1.0544	10	0.31617	T	0.26	.	4.8376	0.13473	0.1264:0.2041:0.0882:0.5813	.	13;13	Q9H7Y0-2;Q9H7Y0	.;CX036_HUMAN	H	13	ENSP00000381086:R13H;ENSP00000367168:R13H	ENSP00000367168:R13H	R	-	2	0	CXorf36	44944978	0.000000	0.05858	0.000000	0.03702	0.296000	0.27459	-1.690000	0.01922	-2.346000	0.00621	0.415000	0.27848	CGC		0.652	CXorf36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056333.2	NM_024689	
GLOD5	392465	broad.mit.edu	37	X	48624397	48624397	+	Intron	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chrX:48624397C>T	ENST00000303227.6	+	2	242				GLOD5_ENST00000470676.1_Intron	NM_001080489.2	NP_001073958.2	A6NK44	GLOD5_HUMAN	glyoxalase domain containing 5											endometrium(1)|lung(2)	3						TCCCCAAATGCCAAAATTCAG	0.378																																					.												.	.	0			.	X						.						57.0	45.0	49.0					X																	48624397		1849	4076	5925	48509341	SO:0001627	intron_variant	392465	.				CCDS55410.1	Xp11.23	2008-02-05			ENSG00000171433	ENSG00000171433			33358	protein-coding gene	gene with protein product							Standard	NM_001080489		Approved		uc011mmh.2	A6NK44	OTTHUMG00000024125	ENST00000303227.6:c.201+20C>T	X.37:g.48624397C>T			48509341	.		Missense_Mutation	SNP	ENST00000303227.6	37	CCDS55410.1																																																																																				0.378	GLOD5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080489	
HDAC6	10013	broad.mit.edu	37	X	48673139	48673139	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chrX:48673139G>A	ENST00000334136.5	+	12	1169	c.991G>A	c.(991-993)Gcc>Acc	p.A331T	HDAC6_ENST00000444343.2_Missense_Mutation_p.A345T|HDAC6_ENST00000413163.2_Missense_Mutation_p.A276T|HDAC6_ENST00000376619.2_Missense_Mutation_p.A331T			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	331	Histone deacetylase 1.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)	p.A331T(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GCTGCCAGTCGCCCTCGAGGT	0.597																																					p.A331T	Pancreas(112;205 1675 2305 8976 15959)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G991A	X						.						77.0	67.0	70.0					X																	48673139		2203	4300	6503	48558083	SO:0001583	missense	10013	exon12			AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.991G>A	X.37:g.48673139G>A	ENSP00000334061:p.Ala331Thr		48558083	NM_006044	O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	37	CCDS14306.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.606947	0.28623	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619;ENST00000436813;ENST00000413163	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	4.96	3.18	0.36537	Histone deacetylase domain (2);	0.206094	0.39274	N	0.001413	D	0.84106	0.5399	M	0.90595	3.13	0.54753	D	0.999981	P;D;P	0.89917	0.567;1.0;0.567	B;D;B	0.91635	0.265;0.999;0.265	T	0.82604	-0.0375	10	0.72032	D	0.01	-14.3667	7.4439	0.27201	0.0921:0.0:0.7433:0.1646	.	321;276;331	B4DZN1;E7EUZ1;Q9UBN7	.;.;HDAC6_HUMAN	T	345;331;331;331;276	ENSP00000398566:A345T;ENSP00000334061:A331T;ENSP00000365804:A331T;ENSP00000398801:A276T	ENSP00000334061:A331T	A	+	1	0	HDAC6	48558083	1.000000	0.71417	0.008000	0.14137	0.011000	0.07611	4.491000	0.60326	0.351000	0.24027	-0.295000	0.09555	GCC		0.597	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044	
CCDC120	90060	broad.mit.edu	37	X	48921464	48921464	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chrX:48921464delC	ENST00000376396.3	+	5	475	c.256delC	c.(256-258)cccfs	p.P87fs	CCDC120_ENST00000536628.2_Frame_Shift_Del_p.P75fs|CCDC120_ENST00000597275.1_Frame_Shift_Del_p.P87fs|CCDC120_ENST00000422185.2_Frame_Shift_Del_p.P87fs|CCDC120_ENST00000603986.1_Frame_Shift_Del_p.P122fs|CCDC120_ENST00000496529.2_Frame_Shift_Del_p.P87fs	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	87								p.T88fs*51(1)		breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						CCGCCGGCGGCCCCCCACAGC	0.677																																					p.P74fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.220delC	X						.						17.0	17.0	17.0					X																	48921464		2198	4289	6487	48808408	SO:0001589	frameshift_variant	90060	exon5			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.256delC	X.37:g.48921464delC	ENSP00000365577:p.Pro87fs		48808408	NM_001163323	B4DFC1|B4DTU2|F5GZU4	Frame_Shift_Del	DEL	ENST00000376396.3	37	CCDS14316.1																																																																																				0.677	CCDC120-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056528.1	NM_033626	
CLCN5	1184	broad.mit.edu	37	X	49855487	49855487	+	Silent	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chrX:49855487C>T	ENST00000307367.2	+	11	2385	c.2094C>T	c.(2092-2094)atC>atT	p.I698I	CLCN5_ENST00000376108.3_Silent_p.I698I|CLCN5_ENST00000376088.3_Silent_p.I768I|CLCN5_ENST00000376091.3_Silent_p.I768I			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	698	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.I698I(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					CCATGGAGATCGTAGTGGATA	0.488																																					p.I768I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2304T	X						.						137.0	110.0	119.0					X																	49855487		2203	4300	6503	49742227	SO:0001819	synonymous_variant	1184	exon14			X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"""Ion channels / Chloride channels : Voltage-sensitive"""	2023	protein-coding gene	gene with protein product	"""Dent disease"""	300008	"""nephrolithiasis 2, X-linked"", ""nephrolithiasis 1 (X-linked)"", ""chloride channel 5"""	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.2094C>T	X.37:g.49855487C>T			49742227	NM_001127899	A1L475|B3KPN6|Q5JQD5|Q7RTN8	Silent	SNP	ENST00000307367.2	37	CCDS14328.1																																																																																				0.488	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1		
KLF8	11279	broad.mit.edu	37	X	56310908	56310908	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chrX:56310908G>A	ENST00000468660.1	+	6	1349	c.1061G>A	c.(1060-1062)cGt>cAt	p.R354H	KLF8_ENST00000374928.3_3'UTR	NM_007250.4	NP_009181.2	O95600	KLF8_HUMAN	Kruppel-like factor 8	354					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.R354H(2)		kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						CTGCATCGCCGTCGCCATGAC	0.547																																					p.R354H												.	.	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)	c.G1061A	X						.						59.0	48.0	52.0					X																	56310908		2203	4300	6503	56327633	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.1061G>A	X.37:g.56310908G>A	ENSP00000417303:p.Arg354His		56327633	NM_007250	B4DJN3|E7EQQ8|L0R3U8|L0R4U2|Q2M246|Q59GV5|Q5HYQ5|Q5JXP7|Q6MZJ7|Q9UGC4	Missense_Mutation	SNP	ENST00000468660.1	37	CCDS14373.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.795820	0.70452	.	.	ENSG00000102349	ENST00000468660	T	0.71934	-0.61	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	0.000007	D	0.82370	0.5022	M	0.74546	2.27	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.85008	0.0904	10	0.87932	D	0	.	13.3786	0.60754	0.0:0.0:1.0:0.0	.	354	O95600	KLF8_HUMAN	H	354	ENSP00000417303:R354H	ENSP00000417303:R354H	R	+	2	0	KLF8	56327633	0.998000	0.40836	0.997000	0.53966	0.745000	0.42441	4.259000	0.58828	1.938000	0.56188	0.597000	0.82753	CGT		0.547	KLF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056887.2	NM_007250	
AMER1	139285	broad.mit.edu	37	X	63412648	63412648	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chrX:63412648delA	ENST00000330258.3	-	2	791	c.519delT	c.(517-519)tttfs	p.F173fs	AMER1_ENST00000403336.1_Frame_Shift_Del_p.F173fs|AMER1_ENST00000374869.3_Frame_Shift_Del_p.F173fs	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	173					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)|p.F173fs*36(6)									GGATACTGCTAAAAAAGCCTT	0.562																																					p.F173fs												.	.	73	Whole gene deletion(67)|Deletion - Frameshift(6)	kidney(65)|large_intestine(7)|ovary(1)	c.519delT	X						.						52.0	50.0	51.0					X																	63412648		2203	4300	6503	63329373	SO:0001589	frameshift_variant	139285	exon2			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.519delT	X.37:g.63412648delA	ENSP00000329117:p.Phe173fs		63329373	NM_152424	A2IB86|Q8N885	Frame_Shift_Del	DEL	ENST00000330258.3	37	CCDS14377.2																																																																																				0.562	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424	
NAP1L3	4675	broad.mit.edu	37	X	92927340	92927340	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chrX:92927340C>A	ENST00000373079.3	-	1	1227	c.964G>T	c.(964-966)Gtt>Ttt	p.V322F	FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000538690.1_5'Flank|FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000355813.5_5'Flank|NAP1L3_ENST00000475430.2_Missense_Mutation_p.V315F	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	322					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)		p.V322F(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						AGCTTGTCAACATTCTTTAAA	0.438																																					p.V322F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G964T	X						.						59.0	54.0	56.0					X																	92927340		2203	4300	6503	92813996	SO:0001583	missense	4675	exon1				CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.964G>T	X.37:g.92927340C>A	ENSP00000362171:p.Val322Phe		92813996	NM_004538	B2RCM0|O60788	Missense_Mutation	SNP	ENST00000373079.3	37	CCDS14465.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190731	0.58017	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.45276	0.9	3.68	2.81	0.32909	.	0.000000	0.85682	D	0.000000	T	0.57873	0.2083	M	0.77616	2.38	0.34686	D	0.725209	D	0.76494	0.999	D	0.77557	0.99	T	0.64960	-0.6284	10	0.38643	T	0.18	.	6.1265	0.20182	0.0:0.858:0.0:0.142	.	322	Q99457	NP1L3_HUMAN	F	322;315	ENSP00000362171:V322F	ENSP00000362171:V322F	V	-	1	0	NAP1L3	92813996	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	5.278000	0.65592	0.922000	0.37019	0.529000	0.55759	GTT		0.438	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538	
PCDH19	57526	broad.mit.edu	37	X	99662739	99662739	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chrX:99662739C>T	ENST00000373034.4	-	1	2532	c.857G>A	c.(856-858)cGc>cAc	p.R286H	PCDH19_ENST00000420881.2_Missense_Mutation_p.R286H|PCDH19_ENST00000255531.7_Missense_Mutation_p.R286H	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	286	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R286H(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						AAAGAGCTCGCGCGTGCGGTC	0.607																																					p.R286H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G857A	X						.						100.0	105.0	103.0					X																	99662739		2163	4241	6404	99549395	SO:0001583	missense	57526	exon1			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.857G>A	X.37:g.99662739C>T	ENSP00000362125:p.Arg286His		99549395	NM_001105243	B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.235551	0.58886	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.52526	0.66;0.66;0.66	5.95	5.95	0.96441	Cadherin (4);Cadherin-like (1);	0.047828	0.85682	D	0.000000	T	0.68256	0.2981	M	0.67625	2.065	0.32561	N	0.531048	D;D;D	0.76494	0.999;0.998;0.999	D;P;D	0.68483	0.958;0.897;0.938	T	0.74520	-0.3638	10	0.59425	D	0.04	.	19.254	0.93938	0.0:1.0:0.0:0.0	.	286;286;286	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	H	286	ENSP00000400327:R286H;ENSP00000362125:R286H;ENSP00000255531:R286H	ENSP00000255531:R286H	R	-	2	0	PCDH19	99549395	0.993000	0.37304	0.030000	0.17652	0.767000	0.43475	5.768000	0.68858	2.498000	0.84270	0.513000	0.50165	CGC		0.607	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766	
GPC4	2239	broad.mit.edu	37	X	132439923	132439923	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chrX:132439923delG	ENST00000370828.3	-	6	1556	c.1032delC	c.(1030-1032)cccfs	p.P344fs	GPC4_ENST00000535467.1_Frame_Shift_Del_p.P274fs	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	344					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate metabolic process (GO:0030204)|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)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.K345fs*49(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GGAGGGGCTTGGGGGGTCCAC	0.587																																					p.P344fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1032delC	X						.						145.0	150.0	148.0					X																	132439923		2203	4300	6503	132267589	SO:0001589	frameshift_variant	2239	exon6			AF030186	CCDS14637.1	Xq26.1	2008-02-05			ENSG00000076716	ENSG00000076716		"""Proteoglycans / Cell Surface : Glypicans"""	4452	protein-coding gene	gene with protein product	"""glypican proteoglycan 4"""	300168				9787072	Standard	NM_001448		Approved	K-glypican	uc004exc.1	O75487	OTTHUMG00000022434	ENST00000370828.3:c.1032delC	X.37:g.132439923delG	ENSP00000359864:p.Pro344fs		132267589	NM_001448	B2R6J7|B4E2C0|Q6ZMA6|Q96L43|Q9NU08|Q9UJN1|Q9UPD9	Frame_Shift_Del	DEL	ENST00000370828.3	37	CCDS14637.1																																																																																				0.587	GPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058338.1	NM_001448	
GABRQ	55879	broad.mit.edu	37	X	151820175	151820175	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3845-01A-01W-0995-10	TCGA-AA-3845-10A-01W-0995-10	g.chrX:151820175G>T	ENST00000370306.2	+	8	1108	c.1088G>T	c.(1087-1089)aGg>aTg	p.R363M		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	363					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)	p.R363M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CGCCAGCCTAGGCGACACAGG	0.502																																					p.R363M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1088T	X						.						151.0	125.0	134.0					X																	151820175		2203	4300	6503	151570831	SO:0001583	missense	55879	exon8			U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.1088G>T	X.37:g.151820175G>T	ENSP00000359329:p.Arg363Met		151570831	NM_018558	A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.259921	0.39995	.	.	ENSG00000147402	ENST00000370306	D	0.81739	-1.53	5.58	3.79	0.43588	Neurotransmitter-gated ion-channel transmembrane domain (2);	7739.210000	0.00357	N	0.000022	D	0.88370	0.6418	M	0.64997	1.995	0.32858	D	0.507512	D	0.89917	1.0	D	0.77004	0.989	T	0.72297	-0.4335	10	0.59425	D	0.04	.	6.3393	0.21314	0.2916:0.0:0.7084:0.0	.	363	Q9UN88	GBRT_HUMAN	M	363	ENSP00000359329:R363M	ENSP00000359329:R363M	R	+	2	0	GABRQ	151570831	1.000000	0.71417	0.022000	0.16811	0.041000	0.13682	3.002000	0.49496	1.233000	0.43693	0.600000	0.82982	AGG		0.502	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558	
